Prenatal sonographic diagnosis of Jeune syndrome

Asphyxiating thoracic dysplasia (Jeune syndrome) is characterized by a narrow thoracic cage, which causes severe respiratory failure with frequent perinatal death; brachymelia, predominantly of the rhizomelic type; renal anomalies; and characteristic radiographic findings of ribs, pelvis, and long tubular bones. Inheritance is autosomal recessive. Prenatal sonographic examination was performed at 17 and 19 weeks of a fetus of parents whose first child had died of Jeune syndrome. The length of the humeri, femora, and tibiae was short (below the mean) for gestational age, and the thorax was abnormally flat and narrow. The iliac wings were square-shaped. We concluded that the fetus had Jeune syndrome. The characteristic skeletal changes of Jeune syndrome are distinct enough at 17 weeks of fetal age to permit sonographic diagnosis.