Teratology -2 Flashcards

1
Q

Fetal alcohol syndrome - facial features

A
  1. Small palpebral fissures
  2. Thin vermillion border
  3. Smooth philtrum
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2
Q

Fetal alcohol syndrome - facial + which other features?

A

Pre- or postnatal growth impairment
CNS abnl (need 1):
a. Structural: head size < 10th %ile, brain abnl on imaging
b. Neurological
c. Functional (global cognitive deficits)
Others: cardiac, skeletal, renal, ophthalmic, ears

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3
Q

Valproic acid - major abnormality

A

Neural tube defects (4%, esp spina bifida)

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4
Q

Carbamazepine - major abnormality

A

1% spina bifida (early 1st trimester exposure)

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5
Q

Topiramate - major abnormality

A

Orofacial clefts

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6
Q

Effect of ACE inhibitors

A

Fetal hypotension and renal hypoperfusion -> ischemia & anuria, IUGR, calvarium maldevelopment, oligo -> pulmonary hypoplasia & limb contractures

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7
Q

What is microtia?

A

Pinna (external ear) is underdeveloped.

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8
Q

Retinoids

A
Ventriculomegaly
Maldevelopment of the facial bones or cranium
Microtia or anotia 
Micrognathia
Cleft palate
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9
Q

Thalidomide

A

Phocomelia – absence of one or more long bones -> hands or feet attached to trunk by a small rudimentary bone
Cardiac
GI (gallbladder aplasia, duodenal atresia)

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10
Q

Warfarin

A

Vertebral and femoral stippling
Nasal hypoplasia (w/ depressed nasal bridge)
Choanal atresia

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11
Q

Methotrexate-aminopterin syndrome

A
Craniosynostosis w/ clover-leaf skull
Wide nasal bridge
Low set ears
Micrognathia
Limb abnormalities
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12
Q

Lithium - major abnormality

A

Ebstein anomaly

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13
Q

Paroxetine

A

Cardiac – VSD and ASD

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14
Q
  1. Small palpebral fissures
  2. Thin vermillion border
  3. Smooth philtrum
A

Fetal alcohol syndrome - facial features

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15
Q

Orofacial clefts

A

Topiramate - major abnormality

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16
Q

Fetal hypotension and renal hypoperfusion -> pulmonary hypoplasia & limb contractures

A

ACE inhibitors

17
Q

Pinna (external ear) is underdeveloped.

A

Microtia - associated with retinoids

18
Q

Phocomelia

A

Absence of one or more long bones -> hands or feet attached to trunk by a small rudimentary bone
Associated w/ Thalidomide

19
Q

Vertebral and femoral stippling
Nasal hypoplasia (w/ depressed nasal bridge)
Choanal atresia

A

Warfarin

20
Q
Craniosynostosis w/ clover-leaf skull
Wide nasal bridge
Low set ears
Micrognathia
Limb abnormalities
A

Methotrexate-aminopterin syndrome

21
Q

Ebstein anomaly

A

Lithium - major abnormality

22
Q

Cardiac – VSD and ASD

A

Paroxetine