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neo boards 2022 > Board Review > Flashcards

Board Review Flashcards

1
Q

Prominent forehead , butterfly hemivertebrae, anterior chamber abnormalities of the eye, branch pa stenosis, pulm stenosis, tof

A

Alagille

Jag1 mutations

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2
Q

Hypoplasia of thymus and parathyroid, cleft palate, VSD , truncus, ToF , IAA

A

Digeorge

22q11 deletions

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3
Q

Upper limb anomalies, ASD, VSD

A

Holt oram

Tbx5 mutations

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4
Q

Long limbs, scoliosis, pectus, aortic root dilation, valve prolapse

A

Marfan

FBN1 mutations

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5
Q

Wide spaced eyes, ptosis, low set ears, webbed neck, pectus, cryptorchidism, pulm valve stenosis, ToF

A

Noonans

PTPN mutations

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6
Q

Bilateral epicanthal folds, tongue protrusion, low nasal bridge, hypotonia, brushfield spots,ASD, VSD, complete AV canal, ToF

A

T21

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7
Q

Microcephaly, cleft lip/palate, holoprosencephaly, ophthalmic issues, ASD, VSD, PDA, dextrocardia

A

T13 patau

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8
Q

Microcephaly, small mouth, micrognathia, joint contractures, cleft lip/palate, scoliosis, VSD, PDA, valve issues, HLHS

A

T18 edwards

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9
Q

Webbed neck, lymphedema, bicuspid aortic valve, aortic stenosis, coarct, interrupted aortic arch

A

Turner XO

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10
Q

Elfin facies, stellate pattern of iris, short anteverted nose, long philtrum, prominent lips, supravalvar aortic stenosis, branch pulm art stenosis

A

Williams

7q11 deletion

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11
Q

Risk for chd in CHARGE

A

50-70%

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12
Q

Risk for CHD in rubinstein-taybi syndrome

A

25%

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13
Q

Risk for CHD in t18

A

90%

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14
Q

Risk for CHD in t21

A

45-50%

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15
Q

First line tx for intrauterine SVT

A

Digoxin

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16
Q

Alveolar gas equation

A

= fio2 (barometric P - water vapor P) - pCO2/0.8
sea level=760
Water vapor=47

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17
Q

A- a gradient

A

= fio2 (baroP - WV P) - pCO2/0.8 - paO2

>600 is bad

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18
Q

OI

A

MAP x fio2/paO2 x 100

> 25 is bad, > 40 = ECMO

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19
Q

Most common type of VSD

A

Perimembranous

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20
Q

Enzyme activated by NO

A

Guanylate cyclase

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21
Q

Most common vasc ring

A

Double aortic arch (40 %)
Persistent R and L 4th branchial arches
2nd most common (30%) R arch with PDA

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22
Q

Rhabdomyoma, ash leaf spots, intracranial tumors, eye involvement, sz, mental deficiency, enamel pits in teeth

A

Tuberous sclerosis
Chr9 and 16
AD

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23
Q

Tuberous sclerosis chromosome

A

9 or 16

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24
Q

Tumor assoc with mccune albright syndrome

A

pituitary adenoma

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25
Q

Tumor assoc with nf

A

Neurofibroma

Pheochromocytoma
schwannoma

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26
Q

Tumor assoc with von hippel lindau

A

Intracranial tumors
Retinal angiomas
Pheochromocytoma

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27
Q

Cardiac med that causes cyanide toxicity

A

Nitroprusside

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28
Q

Receptors targeted by norepi

A

Alpha > beta 1> beta 2

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29
Q

Receptors targeted by isoproterenol

A

Beta only (1 and 2)

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30
Q

Receptors targeted by epi

A

Beta 1 and 2 > alpha
<0.3 beta
>0.3 alpha

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31
Q

Receptors targeted by dopamine

A 
2 dopaminergic (renal vasodilation)
2-6 beta 1 and dopiminergic
6-20 beta 1 and some alpha

Inhibits na/k atpase and na/h pump

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32
Q

Receptors targeted by dobutamine

A

Beta 1 » beta 2

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33
Q

Digoxin target

A

Na/K atpase
Results in increased calcium infux
Decreases svr, hr, AV conduction

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34
Q

Milrinone target

A

Pde3

Accumulation of cAMP , incr ca entry, INCR contractility, relaxation of vasc smooth musc

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35
Q

Off target side effect of milrinone

A

Thrombocytopenia

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36
Q

Most common cyanotic heart lesion in first week of life

A

Tga

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37
Q

Most common cardiac lesion in vacterl

A

VSD (>50%)

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38
Q

Pulmonic stenosis, hypertelorism, down-slanting palpebral fissures, low-set ears, short stature, short webbed neck, pectus excavatum , cryptorchidism, cognitive deficits, bleeding disorders, lymphedema, hypertrophic cardiomyopathy

A

Noonan, autosomal dominant

Most common cause of HCM in children under 4

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39
Q

Rate of recurrence for tof

A

3%

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40
Q

Cardiogenesis begins

A

5 wks

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41
Q

Heart beats @ embryonic week ?

A

6

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42
Q

Embryonic week of heart septation

A

7-8 wks

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43
Q

Ductus arteriosus arises from which aortic arch

A

Distal L 6th

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44
Q

Branch PAs arise from which aortic arch

A

Proximal 6th

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45
Q

Carotid artery arises from which aortic arch

A

3rd

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46
Q

R subclavian artery arises from which aortic arch

A

R 4th

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47
Q

Aortic arch arises from which arch?

A

L 4th

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48
Q

Most common cause of neonatal htn

A

Renal artery thrombosis

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49
Q

Oxygen content

A

(1.34 x hgb x sats) + (0.003 x paO2)

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50
Q

Most common std in pregnancy

A

Chlamydia

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51
Q

Most common type of conjoined twinning

A

Thoracopagus

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52
Q

Most common indication for primary cs

A

Failure to progress

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53
Q

cleft lip and palate, depressed nasal bridge, nail hypoplasia, umbilical hernia , iugr. What drug?

A

Phenytoin

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54
Q

La place’s law

A

P=2x surface tension/radius
Doubling radius will 1/2 the pressure within the alveoli
CPAP incr radius which decr pressure needed to keep alveoli inflated

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55
Q

Weakness, resp distress, bell shaped chest, facial diplegia (carp shaped mouth), talipes equinovarus, prenatal hist of poly and decr fetal movement

A

Congenital myotonic dystrophy

Up to 40% mortality

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56
Q

Genetics of congenital myotonic dystrophy

A 
Autosomal dominant
Triple repeat (ctg) in DMPK gene
Chromosome 19
Maternal anticipation ( maternal facial diplegia, myotonic grip, cardiac conduction defects)
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57
Q

Genetics of spinal muscular atrophy

A

Smn1 gene
Chr 5
AR

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58
Q

Most common craniosynostosis

A

Premature closure of sagittal suture

Scaphocephaly or dolichocephaly

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59
Q

Normal head circumference at term

A

33-38cm

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60
Q

Premature suture closure in crouzon or apert syndrome

A

Coronal (unilateral) - frontal plagiocephaly

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61
Q

Premature suture closure in carpenter syndrome

A

Bilateral coronal

Brachiocephaly

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62
Q

Most common cause of macrocephaly

A

Benign familial macrocephaly
Autosomal dominant
M>F

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63
Q

Most common site involved in neonatal stroke

A

Left mca >r mca > bilateral mca

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64
Q

Most common cause of congenital cataracts

A

Rubella

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65
Q

Hypotonia, excess sleepiness, poor suck, dolichocephaly, almond-shaped eyes, bitemporal narrowing, narrow nasal bridge

A

Prader willi

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66
Q

Hypotonia, severe mental defic, ataxia and jerky puppet-like movements, incr risk for sz, wide spaced teeth, large mouth, protruding tongue, decr iris pigment, deep-set eyes, maxillary hypoplasia

A

Angelman

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67
Q

Hypotonia, microcephaly, abnl fat distrib , inverted nipples, strabismus, cardiomyopathy, protein losing enteropathy, hypoglycemia, coagulation abnorm, sz, cerebellar atrophy, mild to severe psychomotor impairment

A

Congenital disorders of glycosylation

Autosomal recessive

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68
Q

Hypotonia, resp failure, poor feeding, weakness, contractures, bitemporal wasting, mask-like facies, tented upper lip

A

Myotonic dystrophy

Autosomal dominant w/ anticipation

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69
Q

Pupillary light reflex matures

A

30-32w

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70
Q

Conjugate horizontal gaze matures

A

Term

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71
Q

Conjugate vertical gaze matures

A

2m

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72
Q

Visual following matures

A

3m

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73
Q

Visual evoked potential reaches adult level

A

6m

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74
Q

Optic nerve myelination complete

A

24m

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75
Q

Most common cause congenital hearing loss: genetic or acquired?

A

Genetic (50%)
Acquired (25%)
Unknown (25%)

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76
Q

Most common genetic cause of hearing loss

A

Connexin 26 mutation (20-30% of congen hearing loss)

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77
Q

Syndromes with hearing loss

A 
Alport 
treacher collins 
pierre robin
T21
T8
Stickler
Charge
Klippel-feil
Waardenburg
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78
Q

Decibel level of abnormal hearing screen

A

> or = 35 db

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79
Q

% of neonates with congenital hearing loss detected in newborn period

A

90%

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80
Q

Reflex that appears@ 28w, established by 32w, disappears by 2-4m
Persistence assoc with athetoid cp

A

Palmar grasp

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81
Q

Prader willi genetics

A

Uniparental disomy (paternal deletion) @ 15q11-q13

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82
Q

Angelman genetics

A 
Uniparental disomy (maternal deletion) 15q11-q13
Both copies paternal
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83
Q

Excess tearing, corneal clouding, decr pupillary light reflex

A

Congenital glaucoma

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84
Q

Genetics of galactosemia

A

Absent galactose-1- phosphate-uridyltransferase

Autosomal recessive

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85
Q

Cataracts, second and third toe syndactyly , anteverted nostrils, genital abnorm, microcephaly, growth restr

A

Smith-lemli-0pitz syndrome
Autosomal recessive
Defect in cholesterol synthesis

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86
Q

Syndromes assoc with lissencephaly

A

Walker-warburg (cerebro-ocular dysplasia syndrome)

Miller-dieker syndrome

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87
Q

Smooth cortex, microcephaly,ventriculomegaly, widened sylvian fissures, complete/partial agenesis of cc

A

Lissencephaly

Defect in neuronal migration between 12 and 24 wks

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88
Q

Primary neurulation defects

A 
Anencephaly 
myeloschisis
Encephalocele
Mmc
Arnold-chiari malform

Occurs@ 3-4 wks gestation

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89
Q

Prosencephalic development (ventral induction) defects

A

Aprosencephaly
Holoprosencephaly
Agenesis of cc
Septo-optic dysplasia

Occurs @ 2-3 months gest

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90
Q

Neural and glial prolif defects

A

Micrencephaly (small brain)
Macrencephaly (large brain)

Occurs @ 3-4 months gest

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91
Q

Neuronal migration defects

A

Schizencephaly (no cortex)
Lissencephaly (smooth brain)
Pachygyria (broad gyri)
Polymicrogyria

Occurs @ 3-5 months gest

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92
Q

Neuronal organization defects

A 
T21
Fragile x
Autism
Angelman
Prematurity
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93
Q

Timing of axonal outgrowth and prolif

A

3 months gest to birth

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94
Q

Timing of dendritic and synapse formation/organization

A

6 months gest to age 1y

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95
Q

Timing of synaptic rearrangements

A

Birth to years

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96
Q

Timing of corticospinal tract myelination

A

38 w gest to 2y

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97
Q

Last pathway to myelinate

A

Association bundle that connects prefrontal cortex with temporal and parietal lobes
Complete around 32y

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98
Q

Mcc infections conjunctivitis in 1st month of life

A

Chlamydia

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99
Q

When is onset of auditory function in the fetus?

A

20 weeks gestation

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100
Q

Most common chd in 22q11

A

VSD

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101
Q

Conotruncal defects (and vsd), palatal abnormalities, vascular ring (or laryngeal web, subglottic stenosis), imperforate anus (or EA, hernias), thymic hypoplasia, prominent nasal bridge, micrognathia, hearing loss, developmental delay, asd (also schizophrenia, add, anxiety), rib/vertebral anomalies, gu ( hydronephrosis , renal anomalies, cryptorchidism, hypospadias), hypo ca, hypoparathyr, gh defic, lymphopenia

A

22q11 deletion syndrome

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102
Q

Sga infant, petite features, micrognathia, clenched hands, rocker bottom feet, chd (vsd,pda)
Also- prominent occiput, low set ears, small mouth, high arched palate , horseshoe kidneys

A

T18

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103
Q

ToF with long appearing fingers and toes, hypocalcemia

A

22q11 deletion syndrome

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104
Q

Upslanting palpebral fissures, midface hypoplasia, protruding tongue, mild hypotonia, bilateral single palmar creases, sandal gap

A

T 21

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105
Q

Risk of intestinal atresia in t21

A

12%

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106
Q

Risk of tmd in t21

A

10%

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107
Q

Risk of hearing problems in t21

A

75%

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108
Q

Risk of cataracts in t 21

A

15%

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109
Q

Hypertelorism, downslanting palpebral fissures, low set ears, cafe au lait spot
Also- wide spaced nipples, short stature , short webbed neck, ps , hcm, cryptorchidism, developmental delay, coag defects, lymphatic dysplasias

A

Noonan syndrome

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110
Q

Most common cardiac defect in noonan syndrome

A

Pulmonary valve stenosis

HCM

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111
Q

Genetics of noonan syndrome

A

Autosomal dominant

Ptpn11 mutation in 50%

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112
Q

Cluster of vesicles on erythematous base between 7-14 days of life

A

Hsv

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113
Q

Histologic dx of hsv

A

Tzanck smear with multinucleated giant cells

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114
Q

Histologic diagnosis of etox

A

Wright stain with eosinophils

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115
Q

How does etox look different than hsv

A

Wider erythematous base
Single white central papule/ pustule
Lesions@24-48 hours of life (and up to 10 days)

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116
Q

Eb simplex mutations

A

Autosomal dominant

Mutations in keratins, pectins (upper layer epidermis)

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117
Q

Junctional eb mutations

A

Autosomal recessive

Mutations in laminin, pectin, integrins ( components of epidermis/dermis junction)

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118
Q

Dystrophic eb mutations

A

AR or AD

Mutations in type 7 collagen ( lower dermis)

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119
Q

Solitary well-circumscribed lesion on face/neck/scalp, no hair growth, flat pink or slightly raised orange waxy plaque

A

Nevus sebaceous

Made of extra oil glands

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120
Q

Dry thickened skin, temp instability, incr insensible water loss, incr risk of infection

A

Ichthyosis
Thickened skin= buildup of dead skin and keratin
Treat with emollient or retinoids

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121
Q

Milia contents

A

Keratin protein

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122
Q

Highest risk window for neonatal varicella

A

5 days before and 2 days after delivery
No time for maternal antibody transfer
Postnatal exposure, can use cellular immunity to protect from resp droplet exposure (vs hematogenous spread)

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123
Q

Histologic findings in cmv

A

Cells with perinuclear vacuolization around centrally placed nuclei
Owl’s eye inclusion bodies

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124
Q

Gaucher’s disease defect

A

Glucocerebrosidase

Anemia, tcp, hepatosplenomegaly

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125
Q

Christmas tree cataract

A

Myotonic dystrophy

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126
Q

Gene involved in aniridia (no iris)

A

Pax 6
Chr 11
part of wagr syndrome = wilms tumor, aniridia, genital anomalies, range of developmental delays

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127
Q

Cxr with signif cardiomegaly

A

Ebstein’s anomaly

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128
Q

Cxr with boot shaped heart

A

ToF

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129
Q

Cxr with “egg on a string” appearance

A

TGA

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130
Q

Broad distal phalanx of big toe and syndactyly, irregular craniosynostosis, hypertelorism, midfacial hypoplasia , cardiac and neuro defects

A

Apert syndrome
Autosomal dominant
Fgfr 2

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131
Q

Genetics of holt-oram

A

Autosomal dominant

Tbx5

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132
Q

Absent sternal head of pectoralis, hypoplasia of breast/nipple and defic of subcut tissue, ipsilateral syndactyly or hand malformation

A

Poland syndrome

Sporadic

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133
Q

Port wine stain over 1st or 2nd division of trigeminal nerve, st, hemiparesis contralateral to facial lesion, ipsilateral tramline intracortical calcifications (leptomeningeal angiomas), ipsilateral eye abnormalities (optic atrophy, glaucoma, buphthalmos)

A

Sturge weber syndrome

Inheritance pattern unknown

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134
Q

PHACES defects

A 
Posterior fossa abnorm.
Hemangioma (large segmental lesion usu on face)
 Arterial anomalies
Cardiac anomalies
Eye anomalies
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135
Q

Male: female distribution in omphalocele

A

3:1

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136
Q

Male: female distribution in gastroschisis

A

1:1

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137
Q

Imprinted syndromes (9 total)

A 
Angelman
Prader-willi
Russell-silver
Beckwith-wiedeman
Maternal hypomethylation syndromes
Maternal and paternal uniparental disomy of chr 14
Psendohypoparathyroidism type 1b
Transient neonatal diabetes
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138
Q

Inheritance: cf

A

AR

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139
Q

Inheritance: alpha-thal

A

AR

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140
Q

Inheritance: beta-thal

A

AR

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141
Q

Inheritance: sickle cell

A

AR

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142
Q

Inheritance: 21-hydroxylase defic

A

AR

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143
Q

Inheritance: congenital muscular dystrophy

A

‘AR

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144
Q

Inheritance: protein c and s defic

A

AD

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145
Q

Inheritance: spherocytosis

A

Majority are AD, minority are AR

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146
Q

Inheritance: gilbert disease

A

AD

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147
Q

Inheritance: von willebrand disease

A

AD

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148
Q

Inheritance: congenital myotonic dystrophy

A

AD

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149
Q

Inheritance: nf

A

AD

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150
Q

Inheritance: apert syndrome

A

AD

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151
Q

Inheritance: crouzon syndrome

A

AD

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152
Q

Inheritance: holt-oram syndrome

A

AD

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153
Q

Inheritance: Marfan

A

AD

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154
Q

Inheritance: noonan

A

AD

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155
Q

Inheritance: stickler syndrome

A

AD

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156
Q

Inheritance: treacher-collins

A

AD

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157
Q

Inheritance: aplasia cutis

A

AD

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158
Q

Inheritance: bullous ichthyosis and ichthyosis vulgaris

A

AD

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159
Q

Inheritance: eb simplex

A

AD

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160
Q

Inheritance: Keratosis pilaris

A

AD

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161
Q

Inheritance: partial albinism

A

AD

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162
Q

Inheritance: peutz-jegher syndrome

A

AD

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163
Q

Inheritance: waardenburg syndrome

A

AD

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164
Q

Inheritance: adult polycystic kidney disease

A

AD

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165
Q

Inheritance: familial polyposis

A

AD

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166
Q

Inheritance: gardner syndrome

A

AD

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167
Q

Inheritance: alagille syndrome

A

AD

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168
Q

Inheritance: retinoblastoma

A

AD
Some with variable penetrance
Sporadic in 60%

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169
Q

Inheritance: achondroplasia

A

AD

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170
Q

Inheritance: postaxial polydactyly

A

AD

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171
Q

Inheritance: osteogenesis imperfecta

A

AD

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172
Q

Inheritance: thanatophoric dysplasia

A

AD

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173
Q

Inheritance: fabry disease

A

XLR

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174
Q

Inheritance: hunter disease

A

XLR

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175
Q

Inheritance: menkes disease

A

XLR

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176
Q

Inheritance: ornithine carbamyl transferase

A

XLR

Many heterozygote FEMALES affected, likely due to x inactivation

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177
Q

Inheritance: glucose-6-phosphate dehydrogenase defic

A

XLR

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178
Q

Inheritance: Wiskott-Aldrich syndrome

A

XLR

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179
Q

Inheritance: hemophilia a and b

A

XLR

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180
Q

Inheritance: red-green color blindness

A

XLR

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181
Q

Inheritance: duchenne muscular dystrophy

A

XLR

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182
Q

Inheritance: hypohidrotic ectodermal dysplasia

A

XLR

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183
Q

Inheritance: x-linked ichthyosis

A

XLR

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184
Q

Inheritance: nephrogenic DI

A

XLR

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185
Q

Genetic disorders associated with advanced paternal age

A 
Achondroplasia
Apert syndrome
Crouzon syndrome
NF
OI
Thanatophoric dysplasia
Possibly klinefelter and t21
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186
Q

Conditions with female > male

A 
Choanal atresia (2:1)
Choledochal cysts (2.5:1)
Congenital hip dysplasia (5.5:1)
Ureterocele (5-7:1)
T18 (3:1)
ASD (2:1)
PDA (3:1)
Anencephaly (3:1)
Congenital hypothyroid (2:1)
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187
Q

Risk of chd if 1 previous child with chd

A

3-4%

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188
Q

Risk of chd if 2 prior children with chd

A

10%

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189
Q

Risk to next child if: 1 child cleft lip and unaffected parents

A

4-5%

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190
Q

Risk to next child if: 1 child with cleft lip and 1 parent

A

10%

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191
Q

Risk to next child if: 1 child with cleft palate

A

2-6%

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192
Q

Risk to next child if: 1 child with club foot

A

2% if 1st child male

5% if 1st child female

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193
Q

Risk to next child if: 1 parent with club foot and 1 child

A

25%

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194
Q

Risk to next child if: 1 child with hip dysplasia

A

0.5% if male
6.3% if female
Overall, 3-4%

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195
Q

Risk to next child if: 1 child with hirschsprung

A

3-5%

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196
Q

Risk to next child if: 1 child with neural tube defect

A

3-5%

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197
Q

Risk to next child if: mother with pyloric stenosis

A

19% if son, 7% if daughter

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198
Q

Risk to next child if: father with pyloric stenosis

A

5.5% if son, 2.4% if daughter

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199
Q

Risk to next child if: 1 child with pyloric stenosis

A

3% (4% if male, 2.4% if female)

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200
Q

Risk to next child if: mother has balanced t21 translocation

A

10-15%

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201
Q

Risk to next child if: father has balanced t21 translocation

A

5%

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202
Q

Risk to next child if: prior child with t21 and no parent with translocation

A

1% risk to sibling until risk from ama is higher than 1% (after 37yrs)

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203
Q

Incidence of CF carrier status in caucasians

A

1 in 25

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204
Q

Deep creases in palms/soles, camptodactyly (flexion of pip joint), thick lips, deep set eyes, prominent cupped ears, prominent forehead, hypertelorism, micrognathia, short/webbed neck, mild to severe mental deficiency, pelvic dysplasia, hip dysplasia, uteral-renal anomalies, may have cardiac abnormalities

A

Tri 18

Usu mosaic

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205
Q

VSD>PDA, cutis aplasia, polydactyly, narrow hyperconvex fingernails, cleft lip/palate, small eyes, colobomas, retinal dysplasia, sloping forehead, bulbous nose, umb/ing hernia, cryptorchidism, abnl scrotum, bicornuate uterus, microcephaly, holoprosenaphaly, sz, severe mental deficiency, deafness, pelvic dysplasia, apnea, persistence of fetal hemoglobin, incr neutrophils with nuclear projections

A 
Tri 13
Triple screen not helpful
80% with complete trisomy, extra chr of maternal origin , remainder with translocation
90% die in 1st year of life
Diagnose with karyotype
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206
Q

Tri 18 male-female ratio

A

I male: 3 female

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207
Q

VSD, PDA> bicuspid av , ps, coarct, tof
Overlapping fingers and clenched fist, hypoplastic nails, rocker bottom feet
Micrognathia (+/- pierre robin sequence) , small mouth, small eyes, small palpebral fissures, malformed low-set ears, occipital prominence
Umb or ing hernia, cryptorchidism
Narrow bpd, choroid plexus cyst, mental defic
Single umb art, iugr, short sternum

A

Tri 18
95% of conceptions result in sport abortion
50% mortality in 1st wk, 90-95% die in 1st year

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208
Q

Triple screen: low hcg, low estriol, low afp

A

Tri 18

Inhibin a normal

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209
Q

Proportion of tri 21 born to mothers <35 yrs

A

3/4

Due to higher reproductive rate

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210
Q

Quad screen: high hcg, low estriol, low afp, high inhibin a

A

Tri 21

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211
Q

Cri du chat genetics

A

5p deletion
Majority de novo
Deleted portion is paternal origin in 80%

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212
Q

VSD, PDA, ToF
Transverse palmar crease
Hypertelorism, downward slant of palpebral fissures, round facies, epicanthal folds, strabismus, low-set ears
Severe mental deficiency, cat-like cry , microcephaly, hypotonia
Lbw , FTT

A

Cri du chat syndrome

5p deletion

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213
Q

IQ in tri 21

A

25-60

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214
Q

Proportion of tri 21 with hearing loss

A

75%

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215
Q

Proportion of tri 21 with robertsonian translocation

A

3-5%

Usu chr 13,14,15

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216
Q

Thumb hypoplasia, 5th finger clinodactyly, short big toe, talipes equinovarus
Colobomas, incr risk retinoblastoma (usu bilat), small eyes
Microcephaly, micrognathia, large malformed and low set ears, high nasal bridge, hypertelorism, ptosis, epicanthal folds
Hypospadias, cryptorchidism
Mental deficiency
Iugr, focal lumbar agenesis

A

Deletion 13q syndrome

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217
Q

Genetics of wolf- hirschhorn syndrome

A

4p deletion
87% de novo
13% with 1 parent with balanced translocation
Phenotype depends on length of deletion

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218
Q

High forehead, broad or beaked nose, hypertelorism, low set simple ear with preauricular dimple, prominent glabella, supraorbital ridge continuous with nasal bridge, short philtrum, micrognathia
“Greek warrior helmet” appearance
Microcephaly, cranial asymmetry, hypotonia, severe cognitive defects, sz
IUGR, hypospadias, cryptorchidism, cardiac abnorm

A

Wolf-hirschhorn syndrome

Deletion 4p syndrome

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219
Q

Genetics of angelman syndrome

A

70% are deletion of 15q 11-13 with deleted piece of maternal origin
<5% paternal uniparental disomy
20-30% point mutations or other abnorm of maternal 15q11-13

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220
Q

Inappropriate bursts of laughter, wide spaced teeth, large mouth, protruding tongue, decr iris pigment, deep-set eyes, maxillary hypoplasia, microbrachycephaly
Initial hypotonia, severe mental defic, delayed motor skills, absent speech or <6 word vocab, ataxia and jerky movements,sz

A

Angelman syndrome

Deletion of maternal 15q11-13 or paternal uniparental disomy

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221
Q

Anatomic etiology of 22q 11.2

A

Defect in 4th brachial arch and derivatives of the 3rd and 4th pharyngeal pouches

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222
Q

Most common chromosomal deletion

A

22q 11.2

Autosomal dominant

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223
Q

Arch abnormalities,vsd, pda , tof
Cleft palate, prominent nose with square nasal root and harrow alar base (bulbous), hypertelorism, protuberant ears, micrognathia, short philtrum, short palpebral fissures, small mouth
Diaphragmatic hernia, impert anus, esoph atresia
Hypoplastic parathyroid glands with hypocalcemia, deficient cellular immunity, choanal atresia, abundant scalp hair, microcephaly, slender and hyperextensible hands and fingers, developmental delay

A

22q 11.2 microdeletion syndrome

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224
Q

Genetics of Prader-Willi syndrome

A

75% with deletion of 15q 11-13 with deleted piece of paternalorigin
15-20% result from maternal uniparental disomy of 15q
5% from mutation of imprinting center or chromosomal translocation of 15q- these can recur

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225
Q

Small hands and feet
Almond-shaped palpebral fissures, may be upslanting
Thin upper lip, light-colored hair and eye color
Hypogenitalia, undescended testes
Infantile hypotonia (profound), poor suck, mild-severe mental defic, behavioral problems
FTT in infancy, followed by obesity, typically breech position @ delivery
Risk for hypothyroid

A

Prader-willi syndrome

Paternal 15q 11-13 deletion

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226
Q

Rate of hypothyroid in prader-willi

A

25%

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227
Q

Diagnosis of prader-willi/ angelman

A

Methylation analysis

Can also do high resolution chromosome analysis to for look translocation which is impt for recurrence risk

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228
Q

Treatment options for prader-willi

A

Hcg for cryptorchidism
Gh to improve linear growth and lean muscle mass
Ssri for behavioral issues

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229
Q

Genetics of rubenstein-taybi syndrome

A

Microdeletion @ 16 p 13.3
Encodes cAMP regulated enhancer binding protein (CREB)
Majority are sporadic

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230
Q

PDA, VSD, ASD
Broad thumbs with radial angulation, broad 1st toes, 5th finger clinodactyly, flat feet, joint hypermobility
Downward slanting palpebral fissures, hypoplastic maxilla, narrow palate, prominent beaked nose, deviated nasal septum, low-set ears with dysplastic helices, long eyelashes, heavy eyebrows, eye anomalies (nasolacrimal duct obstr, ptosis, glaucoma, strabismus, refractive error)
Hirsutism, cheloid formation
Microcephaly, speech difficulties, stiff unsteady gait, hypotonia, cryptorchidism, developmental delay , postnatal growth defic, incr risk braintumor/leukemia (usu

A

Rubenstein-taybi syndrome

16 p 13.3 deletion (creb)

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231
Q

Genetics of wagr syndrome

A

Microdeletion@ 11 p 13
Usu de novo
Phenotype variability because of diff sized deletions

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232
Q

Wilms tumor
Aniridia
GU anomalies
Moderate to severe mental deficiency
Prominent lips, micrognathia, malformed ears, congenital cataracts, nystagmus, ptosis, blindness
Hypospadius, cryptorchidism
Microcephaly, short stature, renal failure, gonadoblastomas

A

WAGR syndrome
11p13 deletion
Wilms tumor in 50%

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233
Q

Genetics of williams syndrome

A

7q11.23 deletion
Deletion of elastin gene
Majority sporadic

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234
Q

Supravalvular subdortic stenosis > PPS,VSD,asd, coarct
Hypoplastic nails
Prominent lips with open mouth, hoarse voice, blue eyes, stellate iris pattern, periorbital fullness, enamel hypoplasia, depressed nasal bridge, short palpebral fissures, epicanthal folds, long philtrum
Mental defic (iq 41-80), mild microcephaly
Renal asymmetry, pelvic kidney
Hypercalcemia (usu transient), mild perinatal growth restr

A

Williams syndrome

7q 11.23 deletion (includes elastin gene)

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235
Q

Cardiac anomaly assoc w/ williams syndrome

A

Supravalvular subaortic stenosis

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236
Q

Syndrome assoc with supravalvular subaortic stenosis

A

Williams syndrome

7q 11.23 deletion (includes elastin gene)

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237
Q

Genetics of achondroplasia

A

Fgfr3 mutation
Autosomal dominant
80-90% new mutation

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238
Q

Glucose intolerance
Trident hands
Short limbs
Depressed nasal bridge, prominent mandible, frontal bossing
Megalocephaly, mild hypotonia, small foramen magnum (may lead to hydroceph), caudal harrowing of spinal cord
Abnl vertebrae , short stature, spinal complications, narrow chest, flattened vertebral bodies (platyspondyly)

A

Achondroplasia
Fgfr 3 mutation
Autosomal dominant

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239
Q

Intelligence in achondroplasia

A

Normal

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240
Q

Apert syndrome genetics

A

Fgfr 2 mutation

Autosomal dominant

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241
Q

Crouzon syndrome genetics

A

Fgfr 2 mutation

Autosomal dominant with variable expression

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242
Q

Hypertelorism, maxillary hypoplasia, shallow orbits, ocular proptosis, frontal bossing, curved parrot beak nose, strabismus
Premature craniosynostosis (esp coronal, sagittal,lambdoid)
Decr visual acuity, conductive hearing loss

A

Cronzon syndrome
Fgfr 2 mutation
AD

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243
Q

Hypertelorism, midface hypoplasia, shallow orbits, abnl skull shape, large fontanelles, flat facies, down-slanting palpebral fissures, small nose, maxillary hypoplasia, narrow palate, dental anomalies, strabismus
Broad distal phalanx of thumb and big toe, syndactyly of hands and feet
Irregular craniosynostosis (esp coronal)
VSD, PS, overriding aorta
Mental defic, neuro defects
Acne, fusion of cervical vertebrae

A

Apert syndrome
Fgfr 2 mutation
AD

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244
Q

Genetics of beckwith -wiedemann syndrome

A 
11p 15,5
50% hypomethylation of centromeric imprinting center
15% uniparental disomy
10% mutation in CKN1C imprinting center
5% loss of imprinting of IFG2

Usu sporadic
15% with autosomal dominant transition with variable expression and incomplete penetrance

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245
Q

Polyhydramnios, prematurity
Macroglossia, linear earlobe fissures, infraorbital hypoplasia, capillary nevus hammeus, large fontanelle, exophthalmos, metopic ridge, prominent occiput
Omphalocele, diastasis recti
Macrosomia, accelerated ossification, organ hyperplasia ( renal , pancreatic, pituitary), fetal adrenocortical cytomegaly
Microcephaly
Polycythemia, cryptorchidism, chd, intra-abd malignancies (wilms tumor, hepatoblastoma)
Limb hypertrophy, hypoglycemia, placental mesenchymal dysplasia

A

Beckwith-wiedemann syndrome
11p 15.5
Methylation study

246
Q

Infant mortality in beckwith.wiedemann syndrome

A

21%

Healthy outcome in most who survive infancy

247
Q

Tumor surveillance in beckwith-wiedemann syndrome

A

@Risk for wilms tumor and hepatoblastoma
Abd us every 3 months until age 7
Follow afp
Greatest risk if hemihypertrophy and nephromegaly

248
Q

Mental capacity in beckwith-wiedemann syndrome

A

Usu normal

249
Q

Genetics of holt oram syndrome

A

12q2
Tbx5
Autosomal dominant

250
Q

Most common cardiac defect in holt oram syndrome

A

ASD

251
Q

ASD>VSD, coarct, conduction defect

Upper limb defects, absent/hypoplastic or abnomally-shaped thumbs, narrow shoulders

A

Holt oram syndrome
12q2
Tbx 5

252
Q

Genetics of marfan syndrome

A

15q 21.1
Fibrillin gene
Autosomal dominant with variable expression

253
Q

Marfan syndrome management

A

Yearly echo
Monitor for scoliosis
Annual ophtho exam ( risk for lens subluxation)
Beta blocker to decrease risk aortic dilation
Antibiotics before dental procedures
Minimize contact sports and intensive exercise

254
Q

Genetics of noonan syndrome

A

12q 22
Autosomal dominant with wide variable expression
Test with gene panel

255
Q

Most common cardiac defect in noonan syndrome

A

Dysplastic pulm valve

256
Q

Dysplastic pulmonary valve >ASD, cardiomyopathy
Pectus excavatum
Short webbed neck, low post hairline, epicanthal folds, hypertelorism, ptosis, low-set or abnormal ears, low nasal bridge, downslanting palpebral fissures
Cryptorchidism, small penis
Mental deficiency
Short stature, coag abnorm, incr incidence von willebrand disease, thrombocytopenia , cystic hygroma

A

Noonan syndrome

12q 22

257
Q

Genetics of osteogenesis imperfecta

A

Collagen 1 mutation

Autosomal dominant

258
Q

Most severe type of oi

A

Type 2

Usu stillborn or die early in infancy due to resp failure

259
Q

Genetics of stickler syndrome

A

12 q 13.11- 13.2
Collagen type 2 mutation
Autosomal dominant with variable expression

260
Q

Hereditary arthro-ophthalmopathy

A

Stickler syndrome
Chr 12
Collagen type 2

261
Q 
Flat facies, depressed nasal bridge, prominent ears, epicanthal folds, short anteverted nose, mid face or mandibular hypoplasia ( may have pierre robin sequence), enamel anomalies, myopia, chorioretinal degeneration, cataracts, retinal detachment
Deafness, hypotonia, hyper extensible joints
Spondyloepiphyseal dysplasia (flat vertebrae with ant wedging, poorly developed distal tibial epiphyses, flat femoral epiphyses )
Mitral valve prolapse
A

Stickler syndrome
Chr 12
Type 2 collagen

262
Q

Genetics of thanatophoric dysplasia

A

4p 16.3
Fgfr3 mutation
Autosomal dominant
All cases new mutations

263
Q

Most common type of thanatophoric dysplasia

A

Type l
Curved long bones and flat vertebral bodies

T2 has straight femoral bones and cloverleaf skull

264
Q

Short limbs, bowed long bones
Large cranium, low nasal bridge, bulging eyes, small facies
Temporal lobe dysplasia, hydrocephalus, brain stem hypoplasia, hypotonia, severe developmental delay
Flat vertebrae
IUGR, narrow thorax, polyhydramnios

A

Thanatophoric dysplasia
Chr4
Fgfr3 mutation
High mortality after birth due to small thorax and resp insuffic

265
Q

Genetics of treacher-collins syndrome

A

Chr 5
TCOF1 gene (1st and 2nd branchial arch maldevelopment)
Autosomal dominant with variable expression
60% new mutations

266
Q 
Lower eyelid coloboma
Downslanting palpebral fissures
Mandibular hypoplasia
Dysmorphic ears
Malar hypoplasia with or without cleft in zygomatic bone
Partial to total absence of lower eyelashes
Conductive hearing loss
Visual loss
Normal intelligence
A

Treacher- collins syndrome
Chr 5
TCOF1 gene
Branchial arch 1 and 2 maldevelopment

267
Q

Genetics of waardenburg syndrome

A

Autosomal dominant
4 types
T1- PAX3 mutation on 2q 35
T2- microophthalmia gene mutation on 3p 12.3-14.1

268
Q 
Deafness
Pigmentary abnormalities-white forelock, partial albinism, isochromic blue eyes with hypochromic iris, premature graying
Thick eyebrows
Aplasia of posterior semicircular canal
Short palpebral fissures
Broad nasal bridge
Broad mandible
A

Waardenburg syndrome
T1-pax 3 mutation, chr2
T2-microphthalmia gene mutation, chr 3

269
Q

PDA, VSD, ASD, PS, TOF, TGA
Polydactyly, syndactyly (feet), clindodactyly
Lateral displacement of inner canthus, shallow supraorbital ridges, flat nasal bridge, corneal opacity, optic atrophy, low-set malformed ears, hypoplastic mandible and or maxilla, high arched palate
Brachycephaly, mental defic
FTT, hypogenitalia, umb hernia, omphalocele

A

Carpenter syndrome
Autosomal recessive
50% have cardiac anomalies

270
Q

Chondroectodermal dysplasia

A

Ellis-van creveld syndrome

Autosomal recessive

271
Q 
Single atrium or ASD
Short distal extremities, polydactyly (fingers > toes), nail hepoplasia, short stature
Delayed tooth eruption, short upper lip
IUGR, narrow thorax
Normal intelligence
A 
Ellis-van creveld syndrome
Autosomal recessive
Chondroectodermal dysplasia
50% mortality during infancy due to cardioresp difficulties
60% with cardiac anomalies
272
Q

Diagnosis for fanconi pancytopenia syndrome

A

Breakage study

273
Q

Hyperpigmentation
Radial hypoplasia, thumb hypoplasia, short stature
Ptosis, nystagmus, microphthalmos, strabismus
Renal and urinary tract anomalies, hypospadias, small genitalia
Pancytopenia
Microcephaly, mental defic
IUGR, incr risk resp infections , may have cardiac defect
Incr risk AML

A

Fanconi pancytopenia syndrome
Autosomal recessive
Chromosomal breaks in lymphocytes
35% mortality due to hematologic abnormalities

274
Q

Genetics of mickel-gruber syndrome

A

17q 21-24

Autosomal recessive

275
Q

ASD, VSD, PDA, coarct,PS
Postaxial polydactyly
Microphthalmia, cleft palate, micrognathia, ear anomalies
Cryptorchidism, incomplete genitalia
Occipital encephalocele, microcephaly, cerebral and cerebellar hypoplasia, hydrocephaly, absence of CC, septum pellucidum, or olfactory lobes/tract
Cystic dysplastic kidneys
Bile duct proliferation, hepatic cysts

A

Meckel-gruber syndrome
Chr 17
Autosomal recessive
Elevated afp if encepholocele present

276
Q

Abnormal labs in smith lemli opitz

A

Low cholesterol

High 7-dehydrocholesterol

277
Q

2nd and 3rd toe syndactyly, polydactyly
Phosis, cataracts, inner epicanthal folds, micrognathia, cleft palate, low-set or slanted ears, anteverted nostrils
Gul abnormalities (failure of masculin), renal anomalies
Microcephaly, moderate-severe mental defte, maybe hypotonic in infancy
IUGR, often breech

A

Smith lemli opitz syndrome
Defect in cholest synthesis

Can look for low cholesterol and incr 7-dehydrocholesterol in amniotic fluid
95% with syndactyly, 70% with gu anomalies

278
Q

Cardiac defects assoc with TAR

A

ToF
ASD
Present in 1/3

279
Q

Most common cardiac anomaly in holt oram

A

ASD

280
Q

CDH, incr risk hirschsprung disease, duod atresia, imperf anus
Agenesis of cc, dandy walker malformation, hydroceph, olfactory tract abnorm, optic hypoplasia, neuronal heterotopias , severe intellectual disability
Cloudy cornea, microphthalmia, anteverted nares, cleft lip/palate, coarse facial features
Polyhydramnios, cystic hygroma, aortic abnorm, digital and nail hypoplasia, renal anomalies

A

Fryns syndrome

Autosomal recessive

281
Q

Kinky hair syndrome

A

Menkes
X-linked recessive
Abnormal copper transport- copper defic

282
Q

How to diagnose menkes prenatally

A

Abnormal copper uptake in cultured amniotic fluid cells

283
Q

CHARGE stands for:

A 
Coloboma
Heart disease
Atresia of choanae
Retarded growth
Genital hypoplasia
Ear anomalies
284
Q

Genetics of charge syndrome

A

Chromodomain helicase dna-binding gene 7 (CHD7) mutation
Chr 8q 12
Leads to altered chromatin
Autosomal dominant, most de novo

285
Q

When does Pierre Robin sequence occur (fetally)

A

Mandibular hypoplasia prior to 9wks of development

286
Q

Syndromes with port -wine stains

A

Sturge weber
Beckwith wiedemann
Klippel trenaunay weber
Cobb

287
Q

Partial oculo cutaneous albinism
Peripheral neuropathy
Recurrent infections
Abnormal neutrophil degranulation

A

Chediak higashi syndrome

288
Q

Cutaneomeningospinal angiomatosis

Port wine stains with underlying spinal angiomas

A

Cobb syndrome

289
Q

Chromosomal anomalies assoc with cutis aplasia

A

Tri 13

4p deletion syndrome

290
Q

Gram positive cocci in clusters

A

Staph

291
Q

Gram positive cocci in pairs and chains

A

Strep

292
Q

Charge major criteria

A

Coloboma
Choanal atresia/stenosis
Cranial nerve dysfunction
Ear anomalies

Diagnose with all 4 major or 3 major +3 minor

293
Q

Charge minor criteria

A 
Heart defects
Genital hypoplasia
Developmental delay and growth problems
Cleft lip/palate
Tef
Characteristic facial features
294
Q

Initial screening tests for t21

A 
Cbc
Echo
Thyroid
Hearing
Red reflex to look for cataract
295
Q

Newborn covered in tight yellow-brown shiny scale, lower eyelid and lips turn outward, thickened skin on palms and soles, dysplastic nails

A

Colloidian membrane
Risk for hypothermia, hypernatremic dehydration, infection
Majority eventually diagnosed with congenital ichthyosiform erythroderma, assoc with dev delay, scarring, alopecia

296
Q

Genetics of von hippel lindau

A

Chr3
Autosomal dominant
Over expression of transcr factor hif leading to incr tumor growth

297
Q

Tumors in von hippel lindau

A

Hemangioblastoma, most common in cerebellum
Multiple systemic hemangiomata
Retinal angiomas
Pheo

298
Q 
Irregular brown pigmentations
Fibrous dysplasia of bones
Precocious puberty
Hyperthyroid
Hyperparathyroid
Pituitary adenomas
A

Mccune albright

Sporadic

299
Q

Most common disorder of skeletal development that manifests in neonatal period

A

Osteogenesis imperfecta
col1a mutation
Type 2 most severe, lethal

300
Q

Characteristic spine xr finding in achondroplasia

A

Decreased distance between each vertebra moving downward (decreasing interpediculate distance from apper to lower spine)

301
Q

Narrow thorax, short ribs, pre and postaxial polydactyly, fusion of metacarpals and phalanges, dysplasia of pelvis, congenital heart disease, dental abnorm, hypoplastic nails

A

Ellis-van creveld syndrome
Defect in EVCl and 2 genes
Autosomal recessive

302
Q

Asphyxiating thoracic dysplasia

A

Jeune syndrome
IFT80 mutation
Autosomal recessive

303
Q

Narrow thorax, short ribs, resp insuff, postaxial polydactyly, short middle and distal phalanges, cone shaped epiphyses, progressive renal disease, pancreatic and hepatic fibrosis, hirschsprung disease, hydrocephalus

A

Jeune syndrome
Aka asphyxiating thoracic dysplasia
Defect in IFT80
Autosomal recessive

304
Q 
Midline cardiac defects (eg. Vsd)
Cutis aplasia
Polydactyly, narrow hyperconvex nails
Cleft lip/palate
Small eyes, colobomas, retinal dysplasia
Sloping forehead
Umb or ing hernia
Cryptorchidism
Microcephaly, holoprosencephaly, sz, severe mental defic
Deafness
Apnea
Persistence of fetal hgb
A

Tri 13

305
Q 
Macrocephaly with incr total brain volume
Long narrow face with prominent forchead
Large ears
Wide nasal bridge
Epicanthal folds
Hyperextensible joints
Large testes post puberty
Intellectual disability
A

Fragile X
Unstable expansion of cgg trinudeotide repeats that results in loss of function in FMR1 gene
50-200 repeats = premutation, females at incr risk of premature ovarian insuffic and neurocognitive defects
>200 repeats = mutation = methylation-coupled silencing of FMR1 gene

306
Q

Most common inherited cause of developmental delay and intellectual disability

A

Down syndrome followed by fragile x

307
Q 
Hypoplastic nails
Prominent lips
Hoarse voice
Stellate iris pattern
Mental deficiency
Renal anomalies
Transient hypercalcemia
Supravalvular subdortic stenosis
A

Williams syndrome

7q 11. 23 deletion of elastin gene

308
Q 
2nd and 3rd toe syndactyly
Anteverted nostrils
Failure of masculinization of genitalia
Moderate-severe mental defic
FTT
A

Smith-lemli-opitz
Defect in cholesterol synthesis
low cholesterol, high7-dehydrocholest

309
Q

Southern blot

A

Dna

310
Q

Northern blot

A

Rna

311
Q 
Cardiac defects
Broad thumbs and toes 
Downslanting palpebral fissures
Hypoplastic maxilla
Hirsutism
A

Rubenstein-taybi
16p 13.3 deletion
CREB (cAMP-regulated enhancer-binding protein)

312
Q

Proportion of infants with second anomaly it talipes equinovarus is defected prenatally vs postratally

A

60% prenatally vs 10% postratally

313
Q

Turner syndrome patients mosaic for 45x/46xy are at increased risk for what cancer

A

Gonadoblastoma

314
Q 
Refractory seizures
Lactic acidosis
Focal bilateral lesions in basal ganglia
Hypotonia
Long curly eyelashes
A

Leigh syndrome

Mitochondrial disorder

315
Q 
6+ cafe au lait macules
Axillary or inguiral freckling
Macrocephaly
Learning disabilities
No neuro or endocrine findings
A

Legius sundrome
SPRED1 gene mutation
Autosomal dominant

316
Q

Precocious puberty

Cafe au lait macules w/ coast of maine appearance

A

Mccune albright

GNAS1 mutation

317
Q

Most common skin findings in congenital syphilis

A

None (60%)

When present: condylomata lata with rhagades (linear scars), mucous patches on lips/tongue/palate, erythematous papulosquamous eruptions, petechia and hemorrhagic vesicles, bullae (pemphigus syphiliticus)

318
Q

Tzanck smear results in incontinentia pigmenti

A

Eosinophils

319
Q

Mutation in dystrophic eb

A

Collagen type 7

320
Q

Mutation in eb simplex

A

Keratin (k5 or k14)

321
Q

Mutations in junctional eb

A 
Laminin 5 (herlitz junctional eb)
Integrin alpha 6/ beta 4 (junctional eb with pyloric atresia)
Collagen type 17 (non-herlitz junctional eb)
322
Q

Infant recently weaned from breast milk
Scaling erythematous eruption around mouth and in diaper area
Sparse hair, diarrhea, failure to gain weight

A

Acrodermatitis enteropathica
Autosomal recessive
Defective transport protein causes impaired zinc absorption

323
Q

Entire limb is small

A

Micromelia

324
Q

Proximal long bones are short

A

Rhizomelia

325
Q

Distal long bones are short

A

Mesomelia

326
Q

Bones of hands and feet are short

A

Acromelia

327
Q

Bone findings in tri 18

A

11 rib pairs
hypoplastic ribs
Vertebral anomalies

328
Q

Which polydactyly is more likely assoc with a syndrome, pre- or post-axial ?

A

Post-axial (pinky side)
Ellis-van creveld, tri 13, tri 21, chrondroectodermal dysplasia
Post-axial also more common in african americans, pre-axial more common in caucasians

329
Q

Work-up for heterotaxy

A

Abd us
Echo
Head imaging
Renal us

330
Q

Risk of hep B transmission if mom HBsAg+/HBeAg+

A

70-90%

331
Q

Risk of hepb transmission if mom HBsAG+/HBeAg-

A

5-20%

332
Q

Risk of transplacental transmission of untreated primary syphilis

A

70-100%

333
Q

Hutchison triad

A

8th cranial nerve deafness
Interstitial keratitis
Hutchison teeth (peg-shaped notched central incisors)

Late finding of congenital syphilis (>2yrs)

334
Q

Eye findings in congenital syphilis

A

Chorioretinis/ uveitis

335
Q

Heme findings in congenital syphilis

A

Hemolytic anemia

Thrombocytopenia

336
Q

Bone findings in congenital syphilis

A

Osteochondritis (early)

Anterior bowing of shins (saber shins) - late
Symmetric painless knee swelling (clutton joints) - late
Frontal bossing-late
Hutchison teeth (peg shaped notched central incisors) - late

337
Q

Treatment of congenital syphilis

A

Aqueous crystalline penicillin g iv x 10 days

338
Q

Chonoretinitis
Cortical brain calcifications
Hydrocephalus

A

Congenital toxo

339
Q

Heme findings in congenital toxo

A

Blueberry muffin rash (extramedullary hematopoiesis)

Tcp

340
Q

Skin findings in congenital toxo

A

Blueberry muffin rash

Maculopapular rash

341
Q

Long term effects of congenital toxo

A

Hearing loss
Visual impairment
Mental defic

342
Q

Treatment of congenital toxo

A

Pyrimethamine + sulfadiazine x 1yr

Also give folinic acid while on sulfadiazine

343
Q

Risk of hiv transmission from untreated mother to infant

A

25%

344
Q

Recommended testing for hiv-exposed infant

A

48 hol ( 30% positive)
1-2 months
2-4 months

Preferred test is pcr

345
Q

Most likely presentation of untreated infant with maternally-acquired hiv

A

Pip pneumonia (1/3)

346
Q

Neuro/eye findings in congenital cmv

A

Chorioretinitis
Microcephaly
Sensorineural hearing loss-30-40% of symptomatic (only half id’ed on newborn hearing screen), 5-10% of asymptomatic
Periventricular califications

347
Q

Heme findings in congenital cmv

A

Tcp
Blueberry muffin rash (extramedullary hematoporesis )
Indirect hyperbili
Coagulopathy

348
Q

Gbs osteo timing and bone

A

3-4 wks

Humerus

349
Q

Most common site of origin for osteo (bone and location)

A

Femur

Metaphysis

350
Q

What e coli antigen is more likely to lead to meningitis

A

K1

351
Q

Chorioretinitis with salt and pepper fundus

A

Early congenital syphilis

352
Q

Chorioretinitis with severe yellow-white exudate and retinal necrosis

A

Perinatal or congenital hsv

353
Q

Chorioretinitis with diffuse granular pigmented areas, salt and pepper appearance

A

Congenital rubella, occurs in 5% of affected infants

No alteration in vision

354
Q

Chorioretinitis with numerous yellow-white fluffy retinal lesions, hemorrhage, bilateral

A

’ Congenital cmv
Treat with ganciclovir
20% of affected infants

355
Q

Chorioretinitis that is necrotizing and results in large atrophic retinal scars that often involve the macula, usually bilateral

A

Congenital toxo

80-90% of affected infants

356
Q

Chorionetinitis with fluffy white balls

A

Candidiasis

357
Q

Gram + diplococci in chains

A

Gbs

358
Q

Most likely serotype of gbs

A

-serotype 3

359
Q

Most common serotype in early onset listeria

A

1a and 1b

360
Q

Most common serotype in late-onset listeria

A

4b

361
Q

How do you culture gonorrhea

A

Thayer-martin growth medium

362
Q

Obligate intracllular bacteria

A

Chlamydia

363
Q

Gram neg intracellular diplococci in pairs

A

Neisseria gonorrhea

364
Q

Diagnosis of chlamydia

A

Culture with giemsa stain

Not detectable by gram stain

365
Q

Type of virus: hsv

A

Ds-dna

366
Q

Type of virus: cmv

A

Ds-dna

367
Q

Type of virus: vzv

A

Ds-dna

368
Q

Type of virus: hhv6

A

Ds-dna

369
Q

Eye findings in congenital hsv

A

Microphthalmia
Chorioretinitis
Cataracts
Blindness

370
Q

Neuro findings in congenital hsv

A 
Microcephaly
Hydranencephaly
Intracranial calcifications
Hypertonicity
Seizures
371
Q

Skin findings in congenital hsv

A

Vesicles present at birth
Scar
Hypopigmented lesions

372
Q

Type of virus: rsv

A

Rna paramyxovirus

373
Q

Type of virus: hepb

A

Ds-dna

374
Q

Type of virus: hepc

A

Ss-rna

375
Q

Type of virus: hepa

A

Ss-rna

376
Q

Type of virus: hepe

A

Ss-rna

377
Q

Type of virus: parvo b19

A

Ss-dna

378
Q 
Cicatricial lesions along dermatomes, scarred or segmental
Limb abnormalities incl limb atrophy, usu distal to cutaneous lesions
Cataracts, chorioretinitis
Severe mental defic, seizures
Intracranial calcifications
Pneumonia
Encephalopathy
Hepatitis
Possible early death
A

Congenital varicella syndrome

Most common if maternal infection in 1st 20 weeks

379
Q

Poor growth
Hydrops
PDA
Blueberry muffin rash
Sensorineural hearing loss
TCP, hemolytic anemia
Congenital glaucoma, cataracts, microphthalmia, salt and pepperchorioretinitis
Insulin dependent diabetes, thyroid disease
Long bone striated radiolucencies (celery stalking)

A

Congenital rubella syndrome
Greatest risk of anomalies if exposed in 1st trimester
Anomalies rare after 20 wks

380
Q

Diagnosis of congenital rubella

A

Fetal rubella IgM from PUBS
Viral Cx of nasopharynx, blood, and urine
Rubella IgM serum levels and serial rubella IgG levels

381
Q

Type of virus:HIV

A

Ss-rna retrovirus

382
Q

Type of virus: enterovirus

A

Ss-rna

383
Q

Type of virus: rotavirus

A

Ds-rna

384
Q

Which congenital infection is more severe if acquired late in pregnancy

A

Syphilis

385
Q

Which congenital infection is transmitted most early or late in pregnancy, in a u-shaped distribution

A

Rubella

386
Q

Endocrine effects of congenital rubella

A

Insulin dependent diabetes

Thyroid disease

387
Q

Congenital neutropenia

A

Kostman syndrome
Neutrophil elastase gene mutation
90% of pts respond to r gcsf

388
Q

Placental transport of water soluble vitamins

A

Active

389
Q

Placental transport of fat soluble vitamins

A

Simple or facilitated diffusion

390
Q

Which type of vitamins accumulate in the body?

A

Fat soluble

and b12

391
Q

Which type of vitamins requiredaily intake to prevent deficiencies?

A

Water-soluble

392
Q 
Vitamin deficiency:
Photophobia, conjunctivitis
Abnormal epiphyseal bone formation and tooth enamel
Generalized scaling
FTT
A

Vitamin A

393
Q 
Vitamin deficiency:
Fatigue
Irritability
Constipation
Cardiac failure
A 
Vitamin b1 (thiamine)
Aka beriberi
Assoc with pyruvate dehydrogenasecomplex defic and maple syrup urine disease
394
Q 
Vitamin defic:
FTT
Photophobia
Blurred vision
Dermatitis
Mucositis
A 
Vitamin b2 (riboflavin)
Assoc w/ glutaric aciduria type l
395
Q

Vitamin defic assoc with glutaric aciduria type 1

A

B2 (riboflavin)

396
Q

Vitamin defic associated with pyruvate dehydrogenase complex defic and maple syrup urine disease

A

B1 (thiamine)

397
Q 
Vitamin defic:
Dermatitis
Mucositis
Hypochromic anemia
Possible seizures
A 
Vitamin b6 (pyridoxine)
Assoc with homocystinuria
398
Q

Vitamin defic assoc with homocystinuna

A

B6 (pyridoxine)

399
Q

Vitamin defic:
Anemia
Hypersegmented neutrophils

A

Vitamin b12 (cobalamin)
Assoc with mma and homocystinusia
Risk in breast fed infants of vegetarian mothers

400
Q

Vitamin deficiency in vegetarian breast fed infants

A

B12

401
Q

Vitamin deficiency in mma

A

B12

402
Q 
Vitamin defic:
Alopecia
Dermatitis 
scaling
Seborrhea
A

Biotin

Assoc with biotinidase defic, beta-methylcrotonyl glycinuria, proopionic acidemia, pyravate dehydrogenase complex defic

403
Q

4 disorders assoc with biotin defic (alopecia, dermatitis, scaling, seborrhea)

A

Biotinidase defic
Beta-methylcrotonyl glycinuria
Propionic acidemia
Pyruvate dehydrogenase complex defic

404
Q

Vitamin defic:
Poor wound healing
Bleeding gums

A

Vitamin C

Assoc with transient tyrosinemia

405
Q

Vitamin defic in transient tyrosinemia

A

Vitamin C

406
Q

Vitamin defic:
Rickets
FTT
Possible tetany

A

Vitamin D

407
Q

Vitamin defic:
Poor wt gain
Anemia
Infant fed goat’s milk or evap milk

A

Folic acid

Often coexists with fe defic

408
Q

What vitamin should you give with fe to prevent iron-induced hemolysis

A

Vitamin E (alpha-tocopherol)

409
Q

Trace element that regulates glucose levels due to role in insulin metabolism

A

Chromium

Defic results in diabetes in animal models

410
Q

Trace element critical for production of rbcs and hgb formation, impt for iron absorption, assoc with multiple enzyme activities

A

Copper

411
Q

Defic in what trace element results in anemia, osteoporosis, depigmentation of hair and skin, neutropenia, poor wt gain, hypotonia with ataxia later in life

A

Copper

412
Q

Where is fe absorbed

A

Duodenum and prox jejunum

413
Q

What vitamin enhances fe absorption

A

Vitamin C

414
Q

Trace element with role in enzyme (superoxide dismutase) activation, impt for normal bone structure, role in carbohydrate metabolism

A

Manganese

415
Q

Trace element that is cofactor for glutamine peroxidase

A

Selenium

416
Q

Deficiency of which trace element causes cardiomypathy

A

Selenium

417
Q

Trace element that is important component of several enzymes (carbonic anhydrase, carboxypeptidase) , impt for growth

A

Zinc

Acrodermatitis enteropathica - autosomal recessive disorder with abnormal zinc absorption or transport

418
Q 
FTT
Alopecia
Diarrhea
Dermatitis (perianal)
Ocular changes
Crusted erythematous rash involving face, extremities, anogenital areas
Nail hypoplasia or dysplasia
A

Acrodermatifis entcropathica

Autosomal recessive disorder with abnormal zinc absorption or transport

419
Q

When does fetal pth activity start

A

12 wks

420
Q

Where is calcitonin secreted

A

Parafollicular c cells of thyroid

421
Q

Calcitonin actions

A

Inhibits bone resorption
Enhances renal calcium excretion
Modulates prolactin secretion

422
Q

Amount (%) of calcium and phos accrued in 3rd trimester

A

80%

423
Q

When does most bone deposition occur?

A
  • after 24 wks
424
Q

Calcium delivery after 26wks

A

90-120 mg/kg/day

425
Q

Phos delivery after 26 wks

A

60-75 mg/kg/day

426
Q

Mg delivery after 26 wks

A

3-5 mg/kg/day

427
Q

Peak accretion of ca and phos

A

36-38 wks

428
Q

Relative level of calcitonin and pth in fetus

A

Calcitonin is high
Pth is low

Goal is to create bone

429
Q

When does calcium nadir postnatally

A

24-48h

Allows for normal pth response at 48h

430
Q

Actions of pth

A

Incr intestinal abs of ca
Incr calcium and phos resorbtion from bone
Incr calcium retention (decr urine calcium) by kidney
Decr phos retention (incr urine phos) by kidney

Pth will sacrifice phos and bone to increase scrum calcium

431
Q

Calcium /albumin relationship

A

For every 1 g/dl decrease in albumin, total calcium decreases by 0.8 mg/dl

432
Q

Goal calcium in parenteral nutrition

A

50-80 mg/kg/day

433
Q

Which calcium formulation should you give in liver dysfunction (gluconate or chloride)?

A

Chloride -not metabolized by liver

434
Q

Recommended phos amount in parenteral nutrition

A

39-93 mg/kg/day

In utero accretion is 60-75

435
Q

Goal ca to phos ratio in parenteral nutrition

A

0.8-1.5:1

436
Q

Goal for parenteral mg intake

A

5-7.5 mg/kglday

Enteral: 8-15 mglkglday because only 40% absorbed

437
Q

Enteral calcium goal in preterm infant

A

120-220 mg/kg/day

438
Q

Enteral phos goal in preterm infant

A

70-120 mg/kg/day

439
Q

Enteral mg goal for preterm infant

A

8-15 mg/kg/day

440
Q

Chromium toxicity

A

Renal problems

441
Q

Copper toxicity

A

Hepatic problems

442
Q

Manganese toxicity

A

Neuro problems

443
Q

Selenium toxicity

A

Diarrhea and garlic breath (adults)

444
Q

Zinc toxicity

A

Diarrhea and vomiting (adults)

445
Q

What nutrients absorbed in ileum?

A 
Vitamin C
Vitamin b12
Vitamin D
Vitamin k
Bile acids/salts
446
Q

Single most impt risk factor for development of metabolic bone disease

A

Prematurity

447
Q

Most common abnormality detected by routine fetal us

A

Hydronephrosis

448
Q

Where does time uptake occur?

A

Duodenum and jejunum

449
Q

Defect in acrodermatifis enteropathica

A

Zinc transporter protein ZIP4
Will see low alk phos levels (zinc-dependent enzyme)
Secondary infection w/staph or candida is common

450
Q

Type 1 rta (distal)

A 
Diminished acid secretion in distal tubule
Urine ph >6.5
Serum k low-normal
Hypercalciuria
Most severe
451
Q

Type 2 rta (proximal)

A

Diminished bicarb resorption
Urine ph <6.5
Serum k low-normal
No hypercalciuria

452
Q

Type 4 rta

A

Aldosterone deficiency or aldosterone resistance
Urine ph <6.5
Serum k high
No hypercalciuria

453
Q

Most severe rta

A

Type 1 (distal)
Urine is alkalotic
K lost in urine as cation replacement for hydrogen
Tx is bicarb

454
Q

Type 1 (distal) rta treatment

A

Bicarb

455
Q

Treatment for type 2 (proximal) rta

A

Bicarb

456
Q

At what gestational week does lactase reach adult concentration

A

36 weeks

Other disaccharidases reach adult levels by 28w

457
Q

How soon in gestation is pancreatic amylase present?

A

22w

Adequate amount produced, but decr secretion at birth

458
Q

Whey:casein in preterm formula

A

60:40

459
Q

Whey: casein in colostrum

A

80:20

460
Q

Whey: casein in mature bm

A

55:45

461
Q

% Tbw , ecf %, icf % @24w, 32w, birth, and 3m

A

24w: 90%, 65%, 25%
32w: 83%, 53%, 30%
Birth: 80%, 45%, 35%
3m: 70%, 35%, 35%

462
Q

Timing of pronephros formation

A

2-3 wks gestation

463
Q

When do first glomeruli appear?

A

9 wks gestation

464
Q

When is rephrogenesis complete?

A

34-36 wks gestation

465
Q

When does fetal urine production begin?

A

10-12 wks gestation

466
Q

What is approx urine production (ml/hr) at 20wks and term

A

20 wks- 5 ml/h

Term- 50ml/h

467
Q

How much cardiac output goes to neonatal kidney?

A

10%

468
Q

What is higher in human milk vs cow’s milk?

A

Long chain unsaturated fatty acids
Carnitine
Cholesterol
Dha

469
Q

What is lower in human milk compared to cow’s milk

A

Amino acids

470
Q

What is higher in preterm vs term bm

A
  • Protein
    Sodium
    Chloride
    Long-chain polyunsatured fatty acids
471
Q

What is lower in preterm vs term bm

A

Lactose

472
Q

What % of calories should be provided by protein to maintain positive energy and nitrogen balance?

A

7-15%

Minimum goal 2.5-3.5 g/kg/day in preterm, 2-2.5 in term

473
Q

What accounts for greatest amt of energy expenditure in neonate

A

Resting metabolic rate (40-60 kcal/kg/day), followed by nutrition processing (excretion 15, storage 20-30, synthesis 15)

474
Q

Where in the intestine are fat soluble vitamins absorbed?

A

Ileum

475
Q

Where in the intestine is zinc absorbed?

A

Ileum

476
Q

Where in the intestine are bile salts absorbed?

A

Ileum

477
Q

Where in the intestine is b12 absorbed ?

A

Ileum

478
Q

What does jejunum absorb?

A 
Fe
Ca
Mg
Protein
Fat
Carbs

Ileum can compensate some

479
Q

Physiology underlying poor growth in RTAs

A

Low serum ph inhibits growth hormone secretion

480
Q

Max urine osm in preterm infant

A

500 mosm/l

481
Q

Max urine osm of term infant

A

800 mosm/l

482
Q

Max urine osm of adult/older child

A

1200 mosm/l

483
Q

Fetal findings in congenital nephrotic syndrome

A

Sga
Large placenta
Elevated maternal serum or amniotic fluid afp

484
Q

Genetics of congenital nephrotic syndrome, finnish type

A

Autosomal recessive
Mutation in nephrin (nphs1)

Can have impaired immune system and thrombosis due to protein losses in urine

485
Q

Genetics of lowe syndrome

A

Xlr
Disorder affecting enzymatic function of golgi apparatus

Aka oculocerebrorenal syndrome

486
Q

Cataracts, glaucoma
Hypotonia, areflexia, severe mental defic
Renal tubular dysfnc, proteinuria, aminoaciduria, possible congenital nephrotic syndrome
Cryptorchidism

A

Lowe syndrome, aka oculocerebrorenal syndrome
XLR
Defective enzyme activity In golgi

487
Q

Diagnosis of lowe syndrome

A

Elevated maternal serum or amniotic afp

Increased nucleotide pyrophosphatase in skin fibroblasts

488
Q

Defect in bartter syndrome

A

Na, Cl, K transport defects in coop of henle

Leads to dehydration and hypotension from salt wasting

489
Q

Polyhydramnios
Triangular facies, protruding ears, large eyes with strabismus, drooping mouth
Hypotension and dehydration

A

Bartter syndrome

490
Q

Electrolyte abnormalities in bartter syndrome

A

Hypokalemia
Hypochloremia
Metabolic alkalosis
Hypercalciuria

491
Q

Renal agenesis is failure of what structure to develop?

A

Ureteric bud (forms from mesonephric duct)

492
Q

Mcc of aki in the neonate

A

Hie

493
Q

Free water deficit formula

A

4ml x wt x desired change in serum na

494
Q 
Scaly dermatitis
Alopecia
Thrombocytopenia
Incr risk infection
FTT
A

Essential fatty acid deficiency

495
Q

Holman index

A

For essential fatty acid defic
Ratio of triene (mead acid) to tetraene (arachidonic acid)
>0.2 diagnostic of efad

496
Q

Formula for plasma osm

A

2xna + glucose/18 + bun/2.8

497
Q

Resting energy expenditure of elbw/vlbw preterm infant

A

50 kcal/kg/day

498
Q

Fecal energy loss when enterally fed

A

10 kcal/keg/day

499
Q

Caloric requirements for parenteral nutrition

A

80-100 kcal/kg/day

500
Q 
Microcephaly
Hypotonia
Epicanthic folds
Broad nasal tip
Micrognathia
Cleft palate
Low set ears
Syndactyly of 2nd and 3rd toes
Hypospadias
Hypoglycemia
Hypothermia
A

Smith-lemli-opitz

Missing enzyme that converts 7-dehydrocholesterol to cholesterol

501
Q

Intestinal length __________ in the last 15 wks of gestation

A

Doubles

502
Q

Ga at which villi develop in small intestine

A

16 wks

503
Q

Ga at which villi regress in large intestine

A

29 wks

504
Q

Sucking is present in the fetus at what gest age

A

16 wks

505
Q

How much amniotic fluid does the fetus swallow per day in 3rd trimester

A

450 ml/day

506
Q

At what gest age does coordination of suck, swallow, and breathe begin

A

34 wks

507
Q

Pathophys of duodenal atresia

A

Failure of recanalization of intestinal tube around 8-10 wga

508
Q

Risk of pyloric stenosis if mom has it

A

19% if boy, 7% if girl

509
Q

Risk of pyloric stenosis if dad had it

A

5.5% if boy, 2.4% if girl

510
Q

Risk of pyloric stenosis if sibling had it

A

4% if boy, 2.4% if girl

511
Q

Measurements diagnostic of pyloric stenosis

A

Length >15 mm

Thickening >3 mm

512
Q

Pathophys of jejunal/ileal atresia

A

Vascular accident

Accounts for 50% of atresias (more common than duodenal atresia)

513
Q

At what gest age does cloaca divide into urogenital sinus and hindgut

A

6 wga

514
Q

At what gest age do you have complete separation of anus, vagina, + urethra

A

12 wga

515
Q

Defect in gilbert and crigler-najjar

A

Decreased activity of glucuronosyl transferase (decr conjugation)

Crigler-najjar is more severe

516
Q 
Ocular posterior embrytoxon
Congen heart disease
Renal anomalies
Vasc abnormalities
Neonatal cholestasis
Dysmorphic facies
Butterfly vertebrae
A

Alagille syndrome

517
Q

Genetics of schwachman-diamond syndrome

A

Autosomal recessive
Mutation in sds gene - role in maturation of 60 s ribosomal subunit and ribosomal assembly
Chr 7q11

518
Q

Neutropenia, anemia, tcp, or pancytopenia
Steatorrhea, FTT
Recurrent infections
Metaphyseal dystosis, thoracic dystrophies, low turnover osteopenia
Incr risk myelodysplastic syndromes, aml, aplastic anemia

A

Schwachman-diamond syndrome

Mutation in sds , impt in ribosomal maturation and assembly

519
Q

Most common hematologic abnorm in schwachman-diamond syndrome

A

Neutropenia

520
Q

Mcc of abdominal flank mass in neonate

A

Hydronephrosis

521
Q

Na deficit calculation

A

(Desired na - current na) x 0,6 x wt (kg)

522
Q

Nitrogen balance equation

A

( Protein intake g/day x 0.16) - ( urinary urea concentration + est stool losses 4g)

523
Q

Bicarb replacement formula

A

0.3 x bicarb deficit x weight (kg)

524
Q

Hypertrophy and hyperplasia of renal juxtaglomerular apparatus
Incr renin, incr aldo, hypokalemic metabolic alkalosis, normal pth
Dehydration, FTT
Normal BP
Nephrocalcinosis
Normal serum ca, high urine ca

A

Bartter syndrome
Defect of chloride transport in ascending loop
Treat with k supp +/- thiazide +/- indomethacin

525
Q

Defect in bartter syndrome and lab abnormalities

A

Defect in chloride transport in ascending loop
Incr renin, incr aldo, hypokalemic metabolic alkalosis
Normal pth , normal serum ca
High urine ca

526
Q 
Hepatomegaly
Glaucoma 
brain anomalies
Chondrodystrophy
Cortical renal cysts
A

Cerebrohepatorenal syndrome
Aka zellweger syndrome
Autosomal recessive

527
Q

Small thoracic cage with short ribs and abnormal costochondral junctions
Pulm hypoplasia
Cystic tubular dysplasia, glomerulosclerosis, hydronephnosis, horseshoe kidneys

A

Jeune syndrome aka thoracic asphyxiating dystrophy

Autosomal recessive

528
Q 
Encephalocele
Microcephaly
Polydactyly
Cryptorchidism
Cardiac anomalies
Liver disease
Polycystic/dysplastic kidneys
A

Meckel-gruber syndrome

Autosomal recessive

529
Q 
Fibrous angiomatous lesions
Hypopigmented macules
Intracranial calcifications
Seizures
Bone lesions
Polycystic kidneys, renal angiomyolipomata
A

Tuberous sclerosis

Autosomal dominant

530
Q

Hypoplastic nails
Hypoplastic or absent patella
Other bone anomalies
Proteinuria, rephritic syndrome

A

Nail- patella syndrome
Aka hereditary osteo-onychodysplasia
Autosomal dominant

531
Q

Most common hemoglobinopathy

A

HgbE

532
Q

Clotting factor defic assoc with noonan syndrome

A

Factor XI

Aka hemophilia c

533
Q 
Hypopigmented and hyperpigmented skin lesions
Photosensitive malar rash
Mild craniofacial dysmorphisms
High-pitched voice
Congenital leukemia
A

Bloom syndrome

534
Q

Congenital macrocytic hypoplastic anemia
Low bw
Short stature
Abnormal facies
Triphalangeal thumbs
Cardiac and renal involvement
Reticulocytopenia, normal to sl incr wbc and plt counts, bm with absent erythroid precursors
Incr epo, incr rbc adenosine deaminase levels, incr HgbF and I
Incr risk aplastic anemia, myelodysplastic syndrome,acute leukemia

A 
Diamond-blackfan syndrome
Aka congenital erythroid aplasia
Autosomal dominant or recessive
Tx is chronic transfusions, steroids, bm transplant if unresp to steroids
1/3 will enter remission
535
Q 
Short stature
Bm failure with cytopenias
Radial hypoplasia, triphalangeal thumbs
Hyperpigmentation
Microcephaly
Mental defic
Strabismus
Malformed ears
Renal anomalies
Macrocytosis, incr Hb F and I Ag
Predisposition to aml, lymphoma
A

Fanconi syndrome
Aka constitutional aplastic anemia
Iner chromosome breaks with mitomycin c
Definitive tx is bm transplant, 50-75% respond to androgens and hematopoietic growth factors

536
Q

Cardiac anomalies assoc with maternal diabetes

A

HCM
VSD
TGA

537
Q

Fetal anomalies assoc with methimazole

A

Cutis aplasia
Choanal atresia
Esophageal atresia
TEF

538
Q 
Preterm with growth restriction
Neutropenia
Lactic acidosis
Dilated cardiomyopathy with w noncompaction
Club feet
Mildly elevated ck
A

Barth syndrome
X-linked recessive
Taz gene encoding tafazzin, catalyzes formation of mature cardiolipin in cell membrane
Diagnose with high 3 methylgutaconic on UOAs, gene analysis

539
Q

Male
Neutropenia
Lv noncompaction

A

Barth syndrome

X-linked recessive mitochondrial disorder, mutation in tafazzin

540
Q 
Early onset liver failure
Ecoli meningitis/sepsis
Speech problems (apraxia, dysarthria)
Cataracts
Premature ovarian insuffic
A

Galactosemia
Autosomal recessive
Mutation in galactose-1-phosphate-uridyl transferase (GALT)
NBS Can’t defect after blood transfusion
Diagnose with high rbc galactose-l-phosphate and low rbc galt enzyme activity

541
Q

Deficiency in pompe disease

A

Acid-alpha-glucosidase

Aka GAA

542
Q 
Hypertrophic cardiomyopathy
Hypotonia
Muscle weakness
Feeding issues, ftt
Respiratory distress
Elevated ck
Short pr interval on ekg
A 
Pompe disease
Aka glycogen storage disease II
Acid-alpha-glucosidase defic
Usu presents around 4 months
Diagnosis with low WBC GAA activity on NBS
Treat with enzyme replacement for life
543
Q

Boiled cabbage smell

A

Tyrosinemia

544
Q

Musky, mousy odor

A

Pku

545
Q

Sweaty socks odor

A

Isovaleric acidemia

546
Q

Rotting fish odor

A

Trimethylaminuria

547
Q

Deficiency in tyrosinemia

A

Fumarylacetoacetate hydrolase

Converts phenylpyruvate to fumarate and acetoacetate

548
Q

Deficiency in pku

A

Phenylalanine hydroxylase

549
Q 
Seizures, coma, hypotonia or hypertonia
Hepatomegaly
Developmental delay
FTT
Lethargy
Renal dysfunction
Labs: metabolic acidosis, elevated pyruvate and lactate, ketonuria, hyperammonemia, +/- citrullinemia
A

Pyruvate carboxylase deficiency
Autosomal recessive mitochondrial disorder
Needs biotin supplementation

550
Q

Supplement needed in pyruvate carboxylase deficiency

A

Biotin

551
Q

Supplements useful in cystinuria

A

Methionine

Dipenicillamine

552
Q

Supplement useful in isovaleric acidemia

A

Glycine

553
Q

Glycogen storage disease with lactic acidosis

A

Von gierke’s disease
Aka GSD type I
Glucose-6-phosphatase defic

554
Q 
Lactic acidosis
Hypoglycemia 
hepatomegaly
Neutropenia
Diarrhea
FTT
Incr infection risk
Liver failure with possible coagulopathy
A

Von gierke’s disease
Aka GSD TYPE I
Glucose-6-phosphatase defic
Poor prognosis

555
Q

Severe symmetric muscle weakness
Hypertrophic cardiomyopathy
No lactic acidosis

A

Pompe disease
Aka GSD TYPE II
Lysosomal-a-glucosidase defic
Poor prognosis with death usu before 1 year

556
Q

Genetics of otc defic

A

X-linked recessive

Females can be severely affected due to x-inactivation

557
Q 
Metabolic disorder with these lab finding:
Incr serum glutamine and alanine
Decr serum citrulline and arginine
Incr urine orotic acid
Hyperammonemia
Resp alkalosis
Normal glucose
A

Otc defic

X-linked recessive

558
Q 
HSM
Cns deterioration
Cherry red macula
Clear cornea
Foam cells on bm biopsy
A

Niemann-pick disease type A

Sphingomyelinase defic

559
Q

Deficiency in niemann pick disease

A

Sphingomyelinase

560
Q

Deficiency in gaucher disease

A

Glucocerebrosidase

561
Q

Seizures at 4m
Hypotonia
Subtle facial dysmorphisms
Labs: normal sodium, potassium, and calcium. Anion gap metabolic acidosis. Elevated lactate and pyruvate
Global cerebral and cerebellar atrophy, absence of cc

A

Pyruvate dehydrogenase defic
Mitochondrial
Eval enzyme activity in wbcs or skin fibroblasts
Uniformly fatal, no tx

562
Q

Inheritance of pyruvate dehydrogenase defic

A

Mitochondrial

563
Q

Immune dysfnc
Alopecia
Skin rash
Neuro symptoms: sz, hypotonia, lethargy, ataxia, blindness, hearing loss

A

Biofinidase defic

Autosomal recessive

564
Q

Inheritance for biotinidase defic

A

AR

565
Q

Inheritance of menkes disease

A

XLR

Low ceruloplasmin and copper

566
Q

Inheritance of non-ketotic hyperglycinemia

A

AR

Defective cleavage of glycine to ammonia

567
Q

Metabolic d/o assoc with hiccups

A

Non-ketotic hyperglycinemia

AR

568
Q 
Lethargy
Hypo or hypertonia
Seizures
Resp failure
Hiccups
Eeg with burst suppression pattern that evolves to hypsarhythmia in 2nd month
Absent cc
Labs: elevated urine, blood, and csf glycine
A

Non-ketotic hyperglycinemia
AR
Poor prognosis, no tx

569
Q

Ophtho: downward lens dislocation, glaucoma, myopia
Msk: osteoporosis, scoliosis, incr fracture tendency, tall stature, arachnodactyly, decr joint mobility
Cns: dev delay, cognitive impairment, seizures
Heme: thrombosis, incr bleeding risk

Usu asymptomatic as neonate

A

Homocystinuria
Autosomal recessive
Defect in converting homocysteine to methionine (b12-dependent) or homocysteine to cysteine(pyridoxine-dependent)
Supplement with pyridoxine, cysteine, and folate
Good prognosis

570
Q

Inheritance of wilson disease

A

Autosomal recessive

571
Q

Golden-brown pigmentation in cornea
Dysarthria and extrapyramidal movements
Liver disease

A

Wilson’s disease
Autosomal recessive
Copper build-up in liver, cornea, basal ganglia, renal tubules
D-penicillamine to chelate copper

572
Q

Deficiency in tay-sachs

A

Hexosaminidase A

573
Q

Difference b/n niemann pick type a, tay sachs, and infantile gm1 (generalized gangliosidosis)

A 
Niemann pick: hsm , foam cells in bm, presents in 1st month, sphingomyelinase defic
Tay sachs: no hsm, normal bm, presents slightly later (3-6m), hexosamindase a defic
Generalized gangliosidosis (intantile gm1): inclusions in wbcs in bm

All have cherry red spots and profound cns loss

574
Q

Deficiency in generalized gangliosidosis (infantile GM1)

A

Galactosidase

Cherry red spot, hsm, profound cns loss, WBC inclusions

575
Q

Deficiency in metachromatic leukodystrophy

A

Arylsulfatase A

576
Q

Deficiency in wolman disease

A

Acid lipase

577
Q

Hepatomegaly
Profound cns loss
Adrenal calcification
Bm with wbc inclusions

A

Wolman disease

Acid lipase defic

578
Q

Metabolic disorders with positive urine reducing substances

A

Galactosemia
Hereditary fructose intolerance
Tyrosinemia

579
Q

Preferred anti- thyroid med in 1st trimester

A

Ptu

580
Q

Preferred antithyroid med after 1st trimester

A

Methimazole

581
Q

Fetal effects of 1st trimesterexposure to methimazole

A

Cutis aplasia
Choonal atresia
GI defects

582
Q

Fetal effects of 1st trimester exposure to ptu

A

Preauricular sinus/fistula
Urinary tract anomalies
Low bw

583
Q

Preferred 1st line agent for neonatal hyper thyroidism

A

Methimazole
inhibits thyroid peroxidase
Ptu has potential for liver failure

584
Q

Embryonic tissue origin of thyroid? Adrenal? Pituitary?

A

Thyroid-endoderm
Adrenal cortex-mesoderm
Advenal medulla- neural crest (neuroectoderm)
Pituitary-ectoderm

585
Q

Metabolic disorder with alopecia

A

Biotinidase deficiency

586
Q

Metabolic disorders with brittle hair (3)

A 
Menkes
Arginosuccinlyase defic (urea cycle)
Arginosuccinic acid sythetase defic (urea cycle)
587
Q

Metabolic disorders with cataracts (3)

A

Galactosemia
Galactokinase defic
Mevalonic aciduria

588
Q

Metabolic disorders with hydrops (3)

A

Glucose-6-phosphate dehydrogenase defic
Lysosomal storage disease
Glycogen storage disease type IV

589
Q

Metabolic disorders with sweaty feet odor (2)

A

Isovaleric aciduria

Glutaric aciduria type ii

590
Q

Metabolic disorder with thromboemboli

A

Homocystinuria

591
Q

Formula for volume of distribution

A

V d= dose/peak conc

Vd= dose needed to raise conc/(c2-c1)

592
Q

Half life calculation

A

T 1/2= 0.693/Kel

T 1/2=0.693 * Vd/clearance

593
Q

Elimination constant calculation

A

Kel=ln(Cmax/Cmin)/ time between levels

Kel=clearance/Vd

594
Q

Drug clearance calculation

A

Cl=(dose/interval)/[drug]ss

Cl=Kel x Vd

595
Q

Cohort vs case control study

A

Cohort is prospective, start w/ exposure and follow for outcomes
Case control is retrospective, start w/ outcome of interest and look back at prior exposures

596
Q

Antibiotic class that inhibits bacterial enzymes (penicillin binding proteins) necessary for synthesis of peptidoglycan in cell wall

A

Penicillins

597
Q

Antibiotic class that binds to pcn-binding proteins and inhibits cell wall synthesis

A

Cephalosporins

598
Q

Antibiotic class that binds to 30s subunit of bacterial ribosomes and inhibits protein synthesis

A

Aminoglycosides

599
Q

Antibiotic that inhibits peptidoglycan synthesis in all wall

A

Vancomycin

600
Q

Antibiotic that binds reversible to 50s subunit of bacterial ribosomes and inhibits protein synthesis

A

Erythromycin

Bacteriostatic

601
Q

PPI with least inhibitory effect on cytochrome p450

A

Pantoprazole

602
Q

Inducers of cytochrome p450 (4)

A

Dexamethasone
Phenobarbital
Phenytoin
Rifampin

603
Q

Rapid cholestatic hepatitis
FTT
Pruritis
Normal GGT

A

Progressive familial intrahepatic cholestasis type 1 or 2
Autosomal recessive
Type 3 presents in adolescence

604
Q

Acute fatty liver of pregnancy is assoc with what disorder in the fetus?

A

LCHAD
Due to toxic metabolites
3-hydroxyacyl CoA dehydrogenase deficiency

605
Q

Hypoketotic hypoglycemia
Hyperammonemia
Anion gap metabolic acidosis

A

Fatty acid oxidation defects

606
Q 
Seizures
Hypotonia
Polycystic kidneys
Hepatomegaly
Cataracts

Hepatocerebronenal syndrome

A

Zellweger syndrome

Decreased paroxysmal function = limited oxidation of long chain FA

607
Q

Hypoketotic hypoglycemia
Metabolic acidosis
Hyperammonemia
Enlarged cystic kidneys, hepatomegaly, cardiomegaly
High forehead, flat nasalbridge, malformed ears
Smell like sweaty feet

A

Glutaric acidemia type 2
Autosomal recessive
Defect in electron transport chain enzymes

608
Q

Syndrome with posterior embryotoxin

A

Alagille

609
Q 
Microcephalic
Cleft palate
Downslanting palpebral fissures
Sga 
Anteverted nares
2-3 toe syndactyly
Hypospadias
Mild hypotonia
A

Smith lemli opitz

610
Q 
Deep creases in palms and soles
Camptodactyly
Thick lips
Cupped ears
Micrognathia
Bilateral hip dislocation 
Hydronephrosis
A

Trisomy 8

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