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Pediatrics > genetic dz/syndrome > Flashcards

genetic dz/syndrome Flashcards

1
Q

Downs- heart

A

VSD, endocardial cusion defects

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2
Q

Downs - GI

A

hirshsprungs, intestinal atresia, imperforate anus, annular pancreas

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3
Q

Downs - endocrine

A

hypothyroidism

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4
Q

Downs - msk

A

atlanto-axial instability

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5
Q

Downs - neuro

A

alzheimers by 30-35

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6
Q

downs - cancer

A

10x increased risk ALL

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7
Q

cafe-au-lait, seizures, large head

A

neurofibromatosis (AD)

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8
Q

mandibular hypoplasia, gloccoptosis, cleft soft palate (FAS or Edwards)

A

Pierre Robin sequence

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9
Q

broad, square face short statue, self-injurious behavior, ch17 deletion

A

Smith Magenis

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10
Q

hypotonia, hypogonadism, hyperphagia, skin picking, aggression

A

Preder Willi (deletion paternal ch15)

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11
Q

seizures, strabismus, sociable w/episodic laughter,

A

angelman (deletion maternal ch15)

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12
Q

elfin-appearance, friendly, increased empathy and verbal reasoning

A

Williams (ch 7 deletion)

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13
Q

oomphalocele, rocker-bottom feet/hammar toe, microcephaly, clenched hand,

A

Edwards (trisomy 18)

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14
Q

holoprosencephaly, severe MR, microcephaly, claft lip/palate

A

Patau’s (trisomy 13)

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15
Q

14 yo girl w/no breast development, short, high FSH

A

Turners (XO, MC genotype aborted fetuses)

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16
Q

Turners - associated anomalies

A

horshoe kidney, coarctation aorta, bicuspid aortic valve

17
Q

18 yo tall lanky boy with mild MR, gynecomasia, hypogonadism

A

Klinefelter’s syndrome (increased risk gonadal malignancy)

18
Q

IUGR, hypertonia, distinctive facies, limb malformation, SIB, hyperactive

A

Cornelia de Lange

19
Q

microcephaly, smooth philtrum, thin upper lip, ADHD, most common cause MR

A

FAS

20
Q

most common type MR in boys, CGG repeats on X-ch with anticipation, macrocephaly, macroorchidism, large ears

A

Fragile X

21
Q

AD, assoc with advanced pternal age, short palpebral fissues, white forelock, deafness

A

Waardenburg

Pediatrics (3 decks)

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