A newborn is evaluated for suspected fetal alcohol spectrum disorder. Maternal alcohol consumption throughout pregnancy is confirmed. Which physical finding is considered the most characteristic facial feature supporting the diagnosis?

• A Microcephaly with flattened occiput
• B Hypertelorism with downward-slanting palpebral fissures
• C Low-set ears with preauricular skin tags
• D Smooth philtrum and thin upper lip ✓

Explanation

The three cardinal facial features of fetal alcohol syndrome are short palpebral fissures, a smooth philtrum, and a thin vermilion border of the upper lip; these reflect midline facial development disrupted by prenatal alcohol exposure. Microcephaly and growth retardation support the diagnosis but are nonspecific and occur in many syndromes. Hypertelorism with downslanting fissures suggests other dysmorphic syndromes such as Noonan syndrome, not fetal alcohol syndrome.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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