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Peds Exam 2 > Genetics > Flashcards

Genetics Flashcards

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1
Q

Osteogenesis Imperfecta (OI) aka

A

“brittle bone disease”

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2
Q

Etiology of OI

A

Auto dominant

COLA1 and COL1A2 gene mutations (type 1 collagen genes)

Auto recessive subtypes

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3
Q

Types of OI

A

I: Mild (most common)
II: most severe (prenatal lethal)
III-IX: mod-severe

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4
Q

Clinical presentation of OI

A 
excessive/atypical fractures
short stature
bowlegs/leg deformities
scoliosis/kyphosis (breathing difficulty)
Basilar skull deformity (spinal cord concerns)
BLUE SCLERAE
HEARING LOSS (progressivve)
OPALESCENT TEETH
ligament and skin laxity
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5
Q

Imaging for OI

A

maternal U/S detects severe cases

Possible findings:

  • fractures @ various stages of healing (may be mistaken for child abuse)
  • WORMIAN BONES (suture bones), codfish vertebrae (compression fractures: bi-concave osteopenia)
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6
Q

What is important to consider in OI imaging

A

minimize radiation if possible

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7
Q

Wormian bones

A

suture bones in skull in OI

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8
Q

Codfish vertebrae

A

compression fracture in spine from OI that are bi-concave osteopenia

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9
Q

Dx of OI

A

clinical
Lab:
- BIOCHEMICAL TESTING (eval structure and quality of type 1 collagen)
- molecular testing may be beneficial

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10
Q

Labs in biochemical testing in OI

A

Vitamin D, phosphorous, ALP (N or elevated)

HYPERCALCEMIA: common and relates to severity

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11
Q

Meds for OI

A

Bisphosphonates-Pamidronate (IV infusion every 3 months)

Experimental: GH & BMT

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12
Q

What does bisphosphonates-pamidronate do?

A

slow bone reabsorption – reducing fracture rates and increase bone density

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13
Q

Risk of Bisphosphonate-pamidronate

A

hypocalcemia
osteonecrosis of the jaw
Nephrotoxicity

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14
Q

Other management for OI

A

immobilization (short duration) – surgery for some fracture, deformities, scoliosis
low impact exercise (swimming)
parent education: lifting, pulling, holding precautions
car seat/stroller accomodations, +/- wheelchair
Avoid alc, smoking and steroid use

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15
Q

Marfan Syndrome etiology

A

Auto dominant

FBNI (fibrillin mutation) – connective tissue protein

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16
Q

Clinical presentation of marfan syndrome

A

Cardiac: aortic root dilation/dissection

  • AORTIC RUPTURE RISK
  • mitral valve prolapse

Pulmonary:
- predisposed to spontaneous pneumothorax

Ophthalmologic:

  • myopia (nearsitedness)
  • lens subluxation/dislocation (ectopia lentis)

Musculoskeletal:

  • tall, thin
  • increased arm span/Ht ratio
  • scoliosis
  • arachnodactyly (+ hand signs)
  • pectus deformity
  • hindfoot valgus
  • hypermobile joints w/ laxity
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17
Q

(+) Hand signs for marfan syndrome

A

Steinberg

walker-murdock

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18
Q

Steinberg sign

A

fold thumb into closed fist

(+) if thumb extends from palm of hand

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19
Q

Walker-Murdoch sign

A

grip wrist w/ opposite hand.

(+) if thumb and fifth finger of hand overlap w/ each other

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20
Q

Diagnosis of marfan

A

CVS (chorionic villi sampling) or amniocentesis - may detect defective gene
Eye Exam - slit lamp
Radiograph: CXR, Skeletal abnormalities
MRI/CT prn

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21
Q

Consults for marfan

A

cardiology, ortho, ophthalmology

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22
Q

Meds for marfan

A

beta-block – control rate and pressures (aortic concerns)

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23
Q

Other management of marfan

A

strenuous activity restrictions

Possible surgery: enlarging aorta, MVP if needed, progressive scoliosis, chest deformity, various eye problems

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24
Q

Prader-Willi Syndrome Etiology

A

Long arm of Chromosome 15 – absence of PATERNAL genes expression (GENETIC IMPRINTING-UNIPARENTAL DISOMY)

Hypothalamic or pituitary dysfunction – primary central growth hormone deficiency

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25
Genetic imprinting
expression of gene depends on gender of parent donating this gene In PWS: loss of paternal copy Angelman syndrome: loss of maternal copy
26
Types of PWS
1. Paternal deletion (most cases) -- 15q11-q13 | 2. Maternal disomy: two copies of chromo 15 from mother (none from father)
27
Maternal disomy
less distinct features than paternal deletion, higher IQ, milder behavioral problems more likely to have autistic behaviors
28
Clinical presentation of PWS
``` almond eyes triagnular mouth narrow forehead short stature small hands/feet DEPIGMENTATION: skin and eyes HYPOGONADISM: typically sterile, inc. risk for osteoporosis Other concerns: developmental delay, intellectual disability, behavior problems, FOOD SEEKING BEHAVIOR ```
29
Presentation of PWS infants
HYPOTONIA: feeding difficulties, FTT
30
Presentation of PWS in early childhood
HYPERPHAGIA & weight gain -- binge eating
31
Dx of PWS
molecular genetic test -- METHYLATION ANALYSIS
32
Management of PWS
``` replace HGH and testosterone/estrogen healthy diet/exercise multi therapies group home? monitor for complications ```
33
Complications w/ PWS
``` type 2 DM heart disease/stroke sleep apnea joint "wear and tear" psych component ```
34
Most common inherited intellectual disability
Fragile X (FX)
35
FX etiology
X-linked recessive; 90% of x-linked mutations are new mutations
36
Epidemiology of FX
M>F Lyon hypothesis Father transmits to 100% of his daughters (50% of daughters transmit it further)
37
Lyon hypothesis
FX is more common in males because females have variable expression due to x-inactivation
38
Clinical presentation of FX
``` intellectual impairment developmental delay (first words 18-20 months) (motor delay: walk 18-20 months) autistic behaviors poor ability to cope w/ transitions hyperactive anxiety behavior/tantrums seizures Soft smooth skin macrocephaly w/ prominent forehead and chin large ears and long, narrow face MSK: joint laxity, hypotonia, pes planus Eye: strabismus, blue iris Cardiac: MVP (murmur) Macro-orchidism after puberty ```
39
MVP
FX and Marfans
40
Blue sclera
OI
41
Blue iris
FX
42
Lens subluxation
Marfans
43
Dx of FX
Consider genetic screening in males w/ intellectual disabilities CGG repeat in FMR1 gene** Pre-mutations (enhance sx you may have): primary ovarian insufficiency (FXPOI) & tremor/ataxia syndrome (FXTAS)
44
Pre-mutations w/ FX
FXPOI | FXTAS
45
Management of FX
ECHO MRI and eval if seizure activity GERD: medication, feeding therapy PT, OT, Speech
46
DiGeorge Syndrome (DGS) etiology
22q11.2 deletion syndrome (Chromo 22 defect) Auto dominant but most often occurs randomly
47
Symptoms of DGS
Triad: - cardiac abnormalities - hypoplastic thymus: variable T-cell deficits - hypocalcemia (underdeveloped thyroid)
48
Subtypes of DGS
partial vs. complete | based on thymic hypoplasia and immune function
49
Cardiac abnormalities in DGS
asymptomatic w/ mild defects | more severe present w/ cyanosis, HF, FTT, respiratory distress
50
Thymus hypoplasia
thymus is absent in complete DGS | immunodeficiency
51
Other concerns/presentations for DGS
craniofacial: low ears, wide set eyes, underdeveloped chin/small mouth, BULBOUS NOSE TIP PALATAL DEFECTS (speech delay and difficult) GU abnormalities Skeletal (scoliosis) dev. and intellectual delay behavioral/psych issues recurrent infections and inflammatory diseases
52
Dx of DGS
Decreased CD3 + T cells + clinical findings
53
Initial eval in those w/ DGS
urgent echo Labs: CBC w/ diff, calcium and phosphorous (T and B cell subsets) Renal U/S CXR: absent thymic shadow
54
Urgent echo
marfan syndrome | DGS
55
Management of DGS
Cardiac consult: observe vs. surgery Genetic consult for screening Endocrine consult speech/feeding (clef palate requires surgery) behavioral/psych counseling CAUTION W/ LIVE VACCINES (immunodeficiency) Isolation
56
Complete DGS
life expectancy < 1 YO w/o treatment; thymic transplant if possible, HCT
57
Aneuploidies
``` Klinefelter - sex Turner - sex Trisomy 13 trisomy 18 trisomy 21 ```
58
Klinefelter
47, XXY (maternal or paternal origin)
59
When is klinefelter normally diagnosed
usually not caught until they try to start a family and are sterile
60
Presentation of Klinefelter
infants/pre-pubertal boys typically have no obvious signs Tall stature, narrow shoulder, long legs, microorchidism, gynecomastia Mild language delay (expressive) and learning disabilities
61
macroorchidism
FX
62
microorchidism
Klinefelter
63
Labs for klinefelter
testosterone low FSH/LH elevated in adolescents Get endocrine consult to consider testosterone replacement
64
Evals for klinefelter
Endocrine Infertility: 50% may father w/ assistance Speech therapy and school-based interventions counseling
65
Turner Syndrome
45, X Mosaicism: - 45 X/46, XX - 45, X/46, XY with partial or complete deletion of Y
66
Risk of turner patients
higher risk for x-linked recessive disorders such as Hemophilia A/B
67
Clinical features of turners
SHORT low hairline WEBBED NECK broad chest w/ wide spaced nipples (SHIELD CHEST) pigmented nevi infants: lymphedema in dorsum of hands and feet, CHD AVERAGE INTELLECT Cardiac: bicuspid AV (aortic stenosis), coarctation of aorta (aortic dissection risk), HTN MSK: cubitus valgus (wide carrying angle), short 4th metacarpals, MADELUNG DEFORMITY GU: internal and external female genitalia streaked gonads: underdeveloped premature ovarian failure primary amenorrhea (small % can get prego) horeschoe kidney others: hypothyroidism, hearing loss, liver function abnormalities, strabismus, ADHD, emoitional/social difficulties
68
Aortic dissection risk
marfan | turner
69
MVP
Marfan | FX
70
Bicuspid AV (aortic stenosis)
Turner
71
Madelung Deformity
in turners; | V-patttern bone alignment
72
Hearing issues
OI (progressive) Turner Trisomy 21
73
Management of Turners
infertility eval: IVF w/ egg donation but increased risk of aortic dissection during pregnancy endocrine: estrogen and cyclic progesterone therapy to stimulate puberty and assist bone density Monitor for gonadal malignancy: gonadoblastoma -- prophylactic removal of gonads
74
Trisomies
13 (Patau) 18 (edwards syndrome) 21 (down syndrome)
75
Patau syndrome
trisomy 13 | defect in PRECHORDALMESODERM: midline craniofacial, eyes, forebrain
76
Presentation of Patau
``` midline cleft lip and palate sloping forehead scalp defect (cutis aplasia) micro- opthalmia holoprosencephaly ``` MSK: hypotonia, clinodactylyl of fingers/toes, polydactylyl, vertical talus ("rocker bottom") Severe intellectual disability kidney defects CHD*** Omphalocele
77
Clef lip risk
Patau | DGS
78
Vertical talus ("rocker bottom")
Trisomy 13 | Trisomy 18
79
Horseshoe kidney
Turner | Trisomy 18
80
CHD
Turner infants | all trisomies
81
Tx for trisomy 13
most die in utero die before 1 mo <5% survive beyond 6 months supportive care -- "noninterventional paradigm"
82
Edwards syndrome
Trisomy 18 (F>M)
83
Features of Edwards syndrome
intrauterine growth restriction (IUGR) LBW, low set ears, microcephaly, small jaw/mouth, prominent occipital MSK: hypertonia/spasticity, overlapping digits/clenched hands, rocker bottom, short sternum Horseshoe kidney airway obstruction omphalocele, diaphragmatic hernia CHD: VSD and PDA
84
Microcephaly
Trisomy 18
85
diaphragmatic hernias
edwards
86
VSD
edwards
87
Tx for edwards
majority die in utero; only 5% survive beyond 1 year school age and adulthood is possible (severe intellectual disability) palliative care vs. aggressive intervention support group
88
Most common chromosomal abnormality
Trisomy 21 (down syndrome)
89
Development of trisomy 21
mild to mod delay typical developmental delay is 2x average age; risk increases w/ advanced maternal age
90
Clinical features of trisomy 21
``` epicanthic folds flat nasal bridge folded low set ears brachycephaly Brushfield spots (speckled iris) protruding furrowed tongue short neck w/ excessive skin narrow palate upslanting palebral fissures ``` HEENT: visual (cataracts, refractive errors), hearing loss, abnormal teeth CHD: AVSD, VSD, ASD, PDA, TOF Pulm: Pulm HTN, hypoxia intermittent, OSA, recurrent pneumo GI: duodenal atresia, chronic constipation, hirschsprung disease, celliac MSK: hypotonia, joint laxity, SiMON PALMAR CREASE autism ADHD, aggressive behaviors
91
Hypertonia
trisomy 18
92
Eval for down syndrome
cardiac, hearing, opthalmology, neck/spine, endocrine GI Developmental specialist therapy (PT, OT, speech and feeding)
93
genetic screen
pt risk for having fetus w/ disorder: pre and pos-test risks and determine need for more invasive tests
94
Genetic diagnostic testing
diagnose w/ varying certainty the existence of genetic disorder

Peds Exam 2 (3 decks)

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