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Pediatrics Boards > genetics > Flashcards

genetics Flashcards

1
Q

What are the features of Williams Syndrome

A

Cocktail party personality
hypercalcemia
supravalvular aortic stenosis
MR

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2
Q

What are the features of Noonan syndrome

A 
AUTOSOMAL DOMINANT
short stature
pulmonic stenosis
webbed neck
low set ears
50% have factor 11 def causing prolonged PTT
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3
Q

What are the features of VACTERL

A 
vertebral anomalies- hemivertebra
anal anomalies
cardiac anomalies i.e VSD, ASD most common
Tracheo-Esophageal fistula
Renal anomalies
Limb anomalies (esp radial ray)
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4
Q

What syndrome should you think of with congenital cataracts?

A 
WAGR
W-wilms tumor
A-aniridia
G-Genitourinary
R- retardation
need renal USS as screening
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5
Q

WHat is the most common form of inheritance of idiopathic congenital catarcts?

A

autosoma dominant

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6
Q

What diagnosis should you consider if you see a bifid uvula?

A

submucosal cleft palate syndrome

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7
Q

What are the associated risks with submucosal cleft palate syndrome? What should you screen for?

A

conductive hearing loss, middle ear effusion, hypernasal speech. Screen with frequent audiometric exams

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8
Q

what are the renal complications of neurofibromatosis type 1?

A

Renal artery stenosis and secondary hypertension

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9
Q

What is Gordon syndrome?

A

Pseudohypoaldosteronism

  • genetic defect causing increased NaCl reabsorption in distal tubule
  • consequence: fluid overload and hypertension, decreased K+ secretion
  • hypokalemia, metabolic acidosis
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10
Q

What is Liddle Syndrome?

A

Autosomal dominant
primary increase in collecting tubule sodium reabsorption and K+ secretion
Signs a kin to mineralocorticoid excess:
Hypernatremia, hypokalemia, metabolic acidosis, hypertension

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11
Q

What are the growth findings associated with turner syndrome?

A

unexplained short stature

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12
Q

What are the pubertal findings in turner syndrome?

A

ovarian failure–> markedly elevated FSH

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13
Q

What are the most common cardiac anomalies in turner syndrome?

A

Hypoplastic left heart

coarctation of the aorta

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14
Q

What are the characteristic facies in turner syndrome

A

low set ears
small mandible
low hairline

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15
Q

What are the skeletal anomalies in turner syndrome

A

Congenital hip dislocation
shortened 4th metacarpal
scoliosis
cubitus valgus

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16
Q

what are the skin and nail findings in turner syndrome?

A
  • hypoplastic, hyperconvex nails
  • widespread nipples
  • edema of hands or feet
  • shield chest
  • nuchal folds
  • multiple pigmented nevi
17
Q

high arched palate and chronic otitis media

A

associated with turner syndrome

18
Q

WHat are the clinical features of DiGeorge syndrome?

A 
C- cardiac anomalies (conotruncal)
A- abnormal facies
T- thymic anomalies
C- cleft palate
H- hypocalcemia
19
Q

What is the risk of carbamazepine exposure during pregnancy?

A
20
Q

What is the risk of methotrexate exposure during pregnancy?

A

b/w 6-9 weeks gestation at >10mg/week can cause craniosynostosis, craniofacial abnormalities and limb defects

21
Q

What is the risk of ACE inhibitors during pregnancy

A

2nd and 3rd trimester: renal dysgenesis, oligohydramnios and skull ossification defects

22
Q

Lithium

A
23
Q

Phenytoin exposure in 1st trimester:

A

10% risk of fetal hydantoin syndrome:

24
Q

What are the cardinal features of ataxia-telangiectasia syndrome

A 
ataxia
telagiectasia
CNS dysfunction
growth failure
malignancies
*increased risk of breast ca
25
Q

What are the cardinal features of xeroderma pigmentosa?

A

photosensitivity- clear extreme blistering within minutes of sun exposure
skin atrophy
malignancy

26
Q

What are the cardinal features of bloom syndrome

A 
IUGR
malar hypoplasia
facial telangiectasia
malignancy
microcephaly
27
Q

What are the cardinal features of fanconi anemia

A

pancytopenia
hypoplastic thumb and radius
hyperpigmentation
abnormal facies

28
Q

What are the cardinal features of Soto Syndrome?

A 
AD
large hands and feet
LGA
macrocephaly
intellectual disability
hypertelorism
29
Q

What are the cardinal features of Beckwith-Wiedeman Syndrome

A 
AD
- Hemi hypertrophy
- macroglossia
Wilms tumor
posterior auricular pits
omphalocele
30
Q

What are the cardinal features of rubinstein-Taybi syndrome

A
  • short stature and limbs
  • microcephaly
  • beaked nose, broad thumbs and great toes
  • heart defects
  • intellectual disability

Pediatrics Boards (10 decks)

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