Teratology -2 Flashcards
Fetal alcohol syndrome - facial features
- Small palpebral fissures
- Thin vermillion border
- Smooth philtrum
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
Valproic acid - major abnormality
Neural tube defects (4%, esp spina bifida)
Carbamazepine - major abnormality
1% spina bifida (early 1st trimester exposure)
Topiramate - major abnormality
Orofacial clefts
Effect of ACE inhibitors
Fetal hypotension and renal hypoperfusion -> ischemia & anuria, IUGR, calvarium maldevelopment, oligo -> pulmonary hypoplasia & limb contractures
What is microtia?
Pinna (external ear) is underdeveloped.
Retinoids
Ventriculomegaly Maldevelopment of the facial bones or cranium Microtia or anotia Micrognathia Cleft palate
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)
Warfarin
Vertebral and femoral stippling
Nasal hypoplasia (w/ depressed nasal bridge)
Choanal atresia
Methotrexate-aminopterin syndrome
Craniosynostosis w/ clover-leaf skull Wide nasal bridge Low set ears Micrognathia Limb abnormalities
Lithium - major abnormality
Ebstein anomaly
Paroxetine
Cardiac – VSD and ASD
- Small palpebral fissures
- Thin vermillion border
- Smooth philtrum
Fetal alcohol syndrome - facial features
Orofacial clefts
Topiramate - major abnormality