NEW FINDINGS IN SHORT RIB SYNDROME

This white infant, born at 37 weeks of gestation, had a large cranium, bilateral anophthalmia, a midline cleft lip and palate, hypoplastic c hest with short ribs, slightly protuberant abdomen, short limbs, bilat eral single transverse palmar creases, a single umbilical artery, norm al female external genitalia, normal (46 XY) chromosomes, and radiogra phic findings suggesting a short-rib (polydactyly) syndrome type IV (B eemer-Langer). Autopsy showed pulmonary hypoplasia, bilateral renal cy stic dysplasia, intrahepatic bile duct cysts with periportal fibrosis, pancreatic cysts, absent internal genitalia, an atrophic optic chiasm , absent optic nerves, a single left anterior cerebral artery, polymic rogyria, and fusion of the frontal lobes, preoptic region, mammillary bodies, and thalami.