A 3740-g male infant was delivered by spontaneous vaginal delivery with Apgar scores of 6 and 8 at one and five minutes, respectively. Pregnancy was uncomplicated. The infant was in severe respiratory distress, with tachypnea (respirations, 120/min) and cyanosis. Physical examination showed the infant to have multiple congenital anomalies, including multiple gingiva to lip frenula, gingival irregularities and gingival cysts, thoracic hypoplasia, short, bowed long bones, postaxial hand polydactyly, and nail dysplasia. No cardiac anomaly was detected.
The infant was given oxygen therapy, and his condition appeared to stabilize. Chest, abdomen, and skeletal roentgenograms were obtained (Figs 1 to 3). An echocardiogram during the first week of life was normal. He continued to have tachypnea (respirations, 70/min to 80/min) but fed normally and gained weight. During the second week of life, he had an episode of bradycardia and apnea that necessitated resuscitation. Over the following 15 hours, his condition deteriorated