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Peds Flashcards

1
Q

In what sex is pyloric stenosis more common?

A

Males

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2
Q

In what sex is cleft lip (with or without palate) more common?

A

Males

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3
Q

In what sex is clubfoot more common?

A

Males

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4
Q

In what sex is Hirschprung’s disease more common?

A

Males

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5
Q

In what sex is Legg-Perthes more common?

A

Males

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6
Q

In what sex are neural tube defects more common?

A

Females

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7
Q

In what sex are diaphragmatic hernia more common?

A

Female

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8
Q

In what sex is cleft palate alone more common?

A

Females

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9
Q

In what sex is scoliosis more common?

A

Females

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10
Q

In what sex is congenital hip dislocation more common?

A

Females

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11
Q

What is likely to be more important for the development of a more severe birth defect/condition?

A

Genetic influence is probably higher in more severe cases

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12
Q

If a multifactorial condition is due to a higher genetic influence, how does that affect recurrence risk?

A

The more genetic influence, the higher the recurrence risk

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13
Q

What is likely to be more important for the development of a birth defect in sex that is usually not affected by that birth defect?

A

Genetic influence/load is probably high if the less-frequently affected sex is affected

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14
Q

What increases recurrence risk for multifactorial conditions?

A

Closely related affected relative

Multiple affected relatives

More severe

Less affected sex is affected

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15
Q

What is the general recurrence risk for multifactorial conditions?

A

3-5%

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16
Q

What syndrome is associated with supravalular aortic stenosis?

A

William syndrome

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17
Q

What syndrome is associated with pulmonary valve stenosis (pulmonic stenosis)?

A

Noonan syndrome

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18
Q

What syndrome is Tetrology of Fallot associated with?

A

22q11.2 deletion

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19
Q

What syndrome is associated with coarctation of the aorta?

A

Turner syndrome

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20
Q

What are some environmental things that can affect birth defect risk?

A

teratogens

pre-existing maternal diabetes

infections

twins

oligohydramnios

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21
Q

What are some things that can indicated a birth defect is syndromic?

A

other dysmorphic features (may be subtle)

severity of birth defect

family history

developmental delays

other birth defects

seizures, major medical issues

Growth (recognize the effects the birth defect itself may have on growth)

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22
Q

What are some features of Saethre Chotzen syndrome?

A

Craniosynostosis (coronal suture)

abnormallly shaped head,

facial asymmetry,

ptosis

webbing between fingers and toes

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23
Q

What gene causes Saethre Chotzen syndrome?

A

TWIST

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24
Q

How is Saethre Chotzen syndrome inherited?

A

Autosomal dominant

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25
Q

What are some features of Goldenhar syndrome?

A

Facial asymmetry

Microtia (abnormal ear)

ear canal atresia ear tags,

skin tags

May also have:

hydrocephalus

scoliosis

heart defects

renal abnormalities

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26
Q

What causes Goldenhar syndrome?

A

No genes known may be sporadic Never really seen familially

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27
Q

What are the features of Van der Woude syndrome?

A

Cleft lip

Cleft palate

Cleft lip and palate

Lip pits

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28
Q

What gene is associated with Van der Woude syndrome?

A

IRF6

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29
Q

How is Van der Woude syndrome inherited?

A

Autosomal dominant

30
Q

What are the features of Apert syndrome?

A

craniosynostosis

bilateral syndactyly in hands and feet (mitten hands)

Midface hypoplasia

Breathing issues

vertebral fusions

cleft palate

Pretty dysmorphic

31
Q

What gene is associated with Apert syndrome?

A

FGF2

32
Q

How is Apert syndrome inherited?

A

Autosomal dominant, mostly de novo

33
Q

What syndromes are associated with advanced paternal age?

A

Apert syndrome

Achondroplasia

34
Q

What syndrome(s) should you think of when you see an omphalocele?

A

Beckwith-Wiedemann

Trisomy

35
Q

What syndrome is nevus flamus associated with and what is it?

A

Beckwith-Wiedemann

red birthmark on the face

36
Q

What are the features of Sotos syndrome?

A

Large for gestational age

macrocephaly; frontal bossing

advanced bone age

developmental delay

May have heart & renal problems, scoliosis, seizures, and neonatal jaundice

Overgrowth syndrome

No increased risk for tumors

37
Q

What are the features of Weaver syndrome?

A

tall stature

macrocephaly

developmental delay

doughy skin

joint problems

low coordination

abnormal cry

hernias

dysmorphic features

38
Q

What are the features of Simpson-Golabi-Behmel syndrome?

A

Subernumerary nipples

Big (overgrowth)

coarse features

poly/syndactyly

vertebral anomales

tumor risk

pectus excavatum

developmental delays

seizures

brain malformations

39
Q

What condition should you think of when you see a rhabdomyoma?

A

Tuberous sclerosis

40
Q

What is the most common genetic cause of Angelman syndrome?

A

Maternal deletion involving UBE3A

41
Q

What is the recurrence risk for Angelman syndrome?

A

-Deletion or UPD have a <1% recurrence risk

  • as long as parents don’t have a rearrangement
  • germline mosaicism can occur
  • UBE3A or imprinting center defects have a 50% recurrence risk
  • Can be inherited from an unaffected parent if they got it from their dad
42
Q

What are features of achondroplasia?

A

Rhizomelia

developmental delay, normal intelligence

Relative macrocephaly (hydrocephaly possible), frontal bossing Trident shaped hands

Abnormal skin folds

hypotonia

foramen magnum constriction

GERD

Kyphosis, lordosis, spinal stenosis

flattened midface

obstructive apnea

hearing loss

Average height 4’4” male, 4’1” female

43
Q

What gene is associated with achondroplasia?

A

FGFR3

44
Q

How is achondroplasia inherited?

A

Autosomal dominant

45
Q

What are the physical features of Kabuki syndrome?

A

curved eyebrows

large palpebral fissures,

downslanting hypotonic mouth

protruding ears 5th finger clinodactyly

prominent persistent fetal fingertip pads

depressed nasal tip

46
Q

How are the majority of cases of Kabuki syndrome inherited?

A

Autosomal dominant, mostly de novo

Can be x-linked

47
Q

What are some heath problems associated with Kabuki syndrome?

A

GI anomalies (anal atresia)

susceptibility to infections

seizures

feeding problems

hearing loss

renal anomalies

48
Q

What are the features of LEOPARD syndrome?

A

Lentigines, cafe-au-lait

Ecg conduction abnormalities

Ocular hypertelorism

Pulmonic stenosis

Abnormal genitalia

Retardation of growth (short)

Deafness (sensorineural) (noonan spectrum)

49
Q

How is LEOPARD syndrome inherited?

A

Autosomal dominant

50
Q

What are the features of Noonan syndrome?

A
  • Distinctive facial features (hypertelorism, ptosis, prominent forehead, short neck)
  • Short stature
  • pectus
  • heart defect
  • cryptorchidism
  • feeding difficulties
  • disordered breathing
  • dental overcrowding
  • easy bruising/bleeding
  • delayed puberty
51
Q

What kind of disorder is Noonan syndrome and how is it inherited?

A

Rasopathy

Autosomal dominant with incomplete penetrance

(30-75% of parents are affected)

52
Q

What are the facial features of Rubenstein-Taybi syndrome?

A

Downturned palpebral fissures

slightly coarse features

low handing columella

grimacing smile

53
Q

What are the features of Rubenstein-Taybi syndrome?

A

Broad fingers/thumbs

Decrease of size early in life

short stature

respiratory difficulties

failure to thrive

Heart defects

ID, DD, speech delay

Strabismus,

cataracts

Hyper/hypodontia

54
Q

How is Rubestein-Taybi syndrome inherited?

A

Autosomal dominant, mostly de novo

55
Q

What are the features of Russel-Silver syndrome?

A

Prominent forehead

Triangular facies

Short stature, IUGR

normal head circumference

Clinodactyly

asymmetry

abnormal pigmentation/CALs

Delays

GI disorders

56
Q

What are the features of Smith-Lemli-Opitz?

A

Narrow forehead

ptosis

Microcephaly

hypotonia

short stature, FTT

abnormal genitalia/sex reversal in males

Malformations of the heart, lungs, kidneys, liver, GI

intellectual disability

2,3-toe syndactyly

57
Q

What are the features of 1p36 deletion syndrome?

A

Intellectual disability, developmental delay, speech limited

hearing impairment

vision problems

seizures

heart defects

hypotonia, feeding problems

CNS & renal abnormalities

behavior issues

58
Q

What are the facial features of 1p36 deletion syndrome?

A

deep set eye

pointed chin

low set ears

hypertelorism

midface hypoplasia

cleft lip/palate

59
Q

What is the genetic cause of Miller-Dieker Syndrome?

A

17p13.3 deletion (includes LIS1 gene)

60
Q

What are the features of Miller-Dieker syndrome?

A
  • lissencephaly (smooth brain)
  • +midline -calcification=pathognomonic)
  • Intellectual disability (stay around 3-5mos)
  • seizures
  • IUGR, FTT, poor feeding, hypotonia
  • omphalocele or umbilical hernia
  • heart defects
  • infantile spasms
  • breathing problems
  • bitemporal narrowing, thin vermillion
61
Q

What is the genetic cause of Potocki-Lupski syndrome?

A

17p11.2 duplication with RAI1 gene duplication of same region as Smith-Magenis

62
Q

What are the features of Potocki-Lupski syndrome?

A

poor feeding & oral motor skills

hypotonia (infancy),

FTT DD, ID, speech delay

short stature

sleep apnea

heart defects and disease

seizures

Autism, OCD, ADD

63
Q

What are the facial features of Smith-Magenis syndrome?

A

Features progress over time

  • square shaped face
  • deep set eyes
  • tented mouth
  • dark eyebrows, synophrys
64
Q

What is the cause of Smith-Magenis syndrome?

A

17p11.2 deletion, including RAI1 gene

65
Q

What is the cause of Williams syndrome?

A

Deletion (rarely duplication) of 7q11.23

66
Q

What are the features of Williams syndrome?

A

Heart defect (supravalvar aortic stenosis)

stellate iris,

periorbital fullness,

bitemporal narrowing

hoarse voice

hernia (inguinal, umbilical)

joint laxity, connective tissue abnormalities

ID

overly friendly

FTT, poor weight gain

endocrine abnormalities

67
Q

What causes Wolf-hirshhorn syndrome?

A

4p16.3 deletion

68
Q

What are the features of Tay Sachs disease?

A

Severe muscle weakness develops around 3-6 months

loss of motor skills

seizures

vision loss

hearing loss

startled by loud noises

intellectual disability

paralysis

cherry red spot

die in childhood

69
Q

What gene is associated with Tay Sachs disease?

A

HEXA

70
Q

What are the features of Krabbe disease?

A

Loss of myelin

Starts with

  • irritability,
  • weakness,
  • slowed development,
  • fevers without infection

Progresses to

  • more severe weakness,
  • stiffness/contractures,
  • problems eating and breathing

Seizures

Vision loss

If can diagnose before symptoms, can treat with stem cell transplant

Peds (1 decks)

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