Teratogenic exposures — Flashcards

Flashcard 1: Which ocular complication is associated with congenital Rubella?_____

Answer: Cataracts

Flashcard 2: Neonatal _____ syndrome occurs due to exposure to opiate drugs while in the mother's womb

Answer: abstinence

Flashcard 3: Ventricular septal defect (VSD) is associated with _____ syndrome

Answer: fetal alcohol

Flashcard 4: In its most severe form, fetal alcohol syndrome may cause facial clefts and which midline brain malformation?

Answer: Holoprosencephaly (and facial clefts)

Extra: Fetal alcohol syndrome is a leading cause of congenital intellectual disability. It is thought to result from failure of cell migration. In severe cases, disruption of midline development (e.g., via Sonic Hedgehog pathway disruption) can lead to holoprosencephaly and facial clefting. Other high-yield features: - Facial dysmorphism: Short palpebral fissures, smooth philtrum, thin upper lip (vermilion border). - Cardiac: VSD is common. - Growth: Prenatal and postnatal growth retardation.

Flashcard 5: Classic galactosemia causes brain damage, which manifests as _____

Answer: intellectual disability

Flashcard 6: Congenital varicella syndrome can result in _____ (growth pathology)

Answer: limb hypoplasia

Flashcard 7: iodide (lack)

Answer: congenital goiter

Flashcard 8: iodide (excess)

Answer: congenital hypothyroidism

Flashcard 9: What are the most common teratogenic effects of fetal exposure to high-dose X-rays?

Answer: Microcephaly and intellectual disability (mental retardation) in the fetus.

Extra: Ionizing radiation is a known teratogen. The CNS is most sensitive to radiation-induced damage between weeks 8 and 15 of gestation. Other potential effects include growth restriction and eye abnormalities.

Flashcard 10: What are the clinical features of Fetal Hydantoin Syndrome?

Answer: Microcephaly, dysmorphic craniofacial features, hypoplastic nails/distal phalanges, cardiac defects, IUGR, and mental retardation.

Extra: Fetal Hydantoin Syndrome is caused by in utero exposure to anticonvulsants like phenytoin. Key features include digital hypoplasia (classic finding), cleft lip/palate, and growth deficiency.