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Boards > Key Symptoms > Flashcards

Key Symptoms Flashcards

1
Q

Valproic Acid/Anti-convulsant exposure

A

Valproic Acid/Anti-convulsant exposure NTDs (myelomeningocele)

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2
Q

Maternal Diabetes

A

Caudal Regression

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3
Q

Trisomy 13

A

Holoprosencephaly

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4
Q

Trisomy 18

A

Rocker bottom feet, clenched fists, choroid plexus cysts

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5
Q

Trisomy 21

A

(prenatal) CHDs, hypoplastic nasal bone, increased NT/NF (postnatal) Brushfield spots

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6
Q

Cat Eye Syndrome

A

Cat Eye Syndrome Marker 22, coloboma, heart, ear pits/tags

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7
Q

Triploidy

A

Cystic placenta, 3,4-syndactly

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8
Q

Turner

A

Webbed neck, streaked ovaries, aortic stenosis/coarctation, horeshoe kidney

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9
Q

Klinfelter

A

Tall stature, feminization at puberty

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10
Q

Beckwith Wiedemann

A

Large tongue, macrosomia, helical ear pits

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11
Q

Angelman

A

Excessive happiness, fascination with water

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12
Q

Prader Wili

A

Obesity associated with obsessive eating behaviors including eating non-food items

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13
Q

Wolf-Hirschhorn

A

“Greek warrior helmet” head shape

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14
Q

Cri du Chat

A

Cat like cry

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15
Q

William’s Syndrome

A

Strong verbal/language skills, talkative personality

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16
Q

Smith-Magenis

A

Sleep disturbances/disrupted sleep patterns

17
Q

Miller-Dieker

A

Lissencephaly

18
Q

DiGeorge

A

Chromosome 22, heart defects, thymus/immune concerns, hypocalcemia, ear tags/pits

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