A newborn is evaluated for intrauterine growth retardation. On examination the infant has short palpebral fissures, a thin vermillion border of the upper lip, and a smooth philtrum. The mother admits to heavy drinking throughout pregnancy. Which finding would most strongly support fetal alcohol syndrome over an unrelated dysmorphic syndrome?

• A Documented prenatal alcohol exposure in all three trimesters ✓
• B Presence of structural cardiac defects such as septal defects
• C Microcephaly with hypoplasia of the corpus callosum
• D Hypertrichosis and low-set ears

Explanation

Fetal alcohol syndrome requires three elements: characteristic facial anomalies (short palpebral fissures, smooth philtrum, thin upper lip), growth retardation, and neurodevelopmental abnormalities, all in the setting of confirmed prenatal alcohol exposure. Cardiac septal defects, microcephaly, and corpus callosum hypoplasia are associated but non-specific findings seen in many syndromes. Documented exposure across pregnancy is the feature that ties the pattern to alcohol and excludes mimics such as Williams or Noonan syndrome.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.