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.