A FULL-TERM female infant was delivered by a 27-year-old gravida 3, para 3 Latin American woman with two living children after an uneventful antenatal period and appropriate prenatal care. Results of an ultrasonographic examination done at 17 weeks' gestation were normal. At delivery, thick, particulate meconium was noted after artificial rupture of membranes. The infant had respiratory distress and was placed on mechanical ventilation for possible diaphragmatic hernia. She became progressively hypoxic on the high ventilator setting. Her chest was hypoplastic and had widely spaced nipples. A grade 2/6 systolic murmur was heard on chest auscultation. Radiographic bone survey showed numerous segmentation anomalies involving the cervical, thoracic, and lumbar vertebrae and multifocal fusion anomalies of the ribs posteriorly. Echocardiography disclosed multiple congenital cardiac anomalies. Chromosomal analysis showed a normal female genotype, 46,XX.
She died on the third day of life. Autopsy showed a 3.19-kg infant with a short neck, distended