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Paediatrics > Genetic > Flashcards

Genetic Flashcards

1
Q

What is Down’s syndrome?

A

Trisomy 21

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2
Q

What is the cause & recurrence risk of Down’s syndrome?

A

Non-disjunction: 1%

Robertsonian translocation: 10-15%

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3
Q

What are the dysmorphic features of Down’s syndrome?

A

Brachycephaly, microcephaly, flat occiput
Upslanting palpebral fissure, epicanthic fold, Brushfield spots, lens opacity
Flat nasal bridge
Small mouth, protruding tongue, dysplastic teeth

Short phalanges, clinodactyly, single palmar crease, small hands
Wide sandal gap

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4
Q

What are the comorbidities of Down’s syndrome?

A 
CV: VSD (MC), AVSD (most characteristic)
GI: duodenal atresia, Hirschsprung
Congenital hypothyroidism
MSK: A1/2 subluxation
Ear: hearing loss, recurrent OM
eye: cataract, refractory errors
Hemat: leukemia
Others: MR, hypotonia, OSA, hyperkeratosis
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5
Q

What is the prognosis of Down’s syndrome?

A

Shorter life expectancy (50-60y)

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6
Q

What is Turner syndrome?

A

45 X0

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7
Q

What are the dysmorphic features of Turner?

A 
Short stature
Hypertelorism, ptosis
Short webbed neck
Shield chest, widely spaced nipples, x breast development
Cubital valgus
Low posterior hairline
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8
Q

What are the comorbidities of Turner?

A 
Heart: bicuspid aortic valve, CoA
Infertility, amenorrhea, osteoporosis: ovarian failure
Hypothyroidism
Horseshoe kidney
Recurrent OM
Gonadoblastoma
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9
Q

What is the prognosis of Turner?

A

Good

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10
Q

What is Klinefelter?

A

47 XXY

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11
Q

What are the dysmorphic features of Klinefelter?

A

Tall stature, gynecomastia, small testes

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12
Q

What are the comorbidities of Klinefelter?

A

Hypothyroidism, infertility

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13
Q

What is the prognosis of Klinefelter?

A

Good

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14
Q

What is the cause of Marfan’s syndrome?

A

MC FBN1 mutation

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15
Q

What are the dysmorphic features of Marfan’s syndrome?

A 
Tall stature
Long limbs, arachnodactyly, joint hypermobility (thumb & wrist sx)
High arch palate, dislocated lens
Pectus deformity
Skin striae
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16
Q

What are the comorbidities of Marfan’s syndrome?

A

Heart: MVP, AR
Vascular: aortic root dilatation, aortic dissection
PTX

17
Q

What is the prognosis of Marfan’s syndrome?

A

Short life expectancy (70y w/ treatment)

18
Q

What is the cause of Noonan syndrome?

A

Mutation of genes in RAS pathway

19
Q

What are the dysmorphic features of Noonan syndrome?

A 
Short stature
Hypertelorism, ptosis, epicanthic folds
Low set ears
Webbed neck, cubitus valgus
Shield chest, widely spaced nipples
Triangular face
Low posterior hairline
20
Q

What are the comorbidities of Noonan syndrome?

A

Heart: PS, HOCM
Cryptorchidism
Bleeding tendency
FTT, developmental delay

21
Q

What is the prognosis of Noonan syndrome?

A

Good if no severe cardiac abnormalities

22
Q

What is VACTERL association?

A

Vertebral, anorectal, cardiac (VSD, ASD, TOF), TEF, esophageal atresia, rectal, limbs

Paediatrics (10 decks)

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