Clinical Reasoning: A neonate with micrognathia and hypotonia.

A female infant was delivered via cesarean section at 39 weeks' gestation to a 40-year-old mother. Pregnancy was notable for normal fetal movement and amniotic fluid indices. Apgar scores were 7 and 8 at 1 and 5 minutes. Shortly after birth, the infant developed respiratory distress and apnea that resolved with repositioning of her neck and trunk. General examination was remarkable for severe micrognathia, high arched palate, bitemporal wasting, and bilateral talipes varus (club foot) contractures. Neurologic examination showed intact mental status, facial diplegia, axial hypotonia with vertical suspension, normal resting tone (knees and elbows were flexed when supine), normal strength (i.e., antigravity throughout her extremities), and normal infantile and deep tendon reflexes. She was transferred to our neonatal intensive care unit for evaluation of surgical options to correct her micrognathia.