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Flashcards in Teratology -2 Deck (22):
1

Fetal alcohol syndrome - facial features

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

2

Fetal alcohol syndrome - facial + which other features?

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

3

Valproic acid - major abnormality

Neural tube defects (4%, esp spina bifida)

4

Carbamazepine - major abnormality

1% spina bifida (early 1st trimester exposure)

5

Topiramate - major abnormality

Orofacial clefts

6

Effect of ACE inhibitors

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

7

What is microtia?

Pinna (external ear) is underdeveloped.

8

Retinoids

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

9

Thalidomide

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)

10

Warfarin

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

11

Methotrexate-aminopterin syndrome

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

12

Lithium - major abnormality

Ebstein anomaly

13

Paroxetine

Cardiac – VSD and ASD

14

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

Fetal alcohol syndrome - facial features

15

Orofacial clefts

Topiramate - major abnormality

16

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

ACE inhibitors

17

Pinna (external ear) is underdeveloped.

Microtia - associated with retinoids

18

Phocomelia

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

19

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

Warfarin

20

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

Methotrexate-aminopterin syndrome

21

Ebstein anomaly

Lithium - major abnormality

22

Cardiac – VSD and ASD

Paroxetine