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 chest with short ribs, slightly protuberant abdomen, short limbs, bilateral single transverse palmar creases, a single umbilical artery, normal female external genitalia, normal (46 XY) chromosomes, and radiographic findings suggesting a short-rib (polydactyly) syndrome type IV (Beemer-Langer). Autopsy showed pulmonary hypoplasia, bilateral renal cystic 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, polymicrogyria, and fusion of the frontal lobes, preoptic region, mammillary bodies, and thalami.
Cideciyan
D
D
University of Miami, School of Medicine, Jackson Memorial Medical Center Department of Pathology, Florida 33101.
Rodriguez
M M
MM
Haun
R L
RL
Abdenour
G E
GE
Bruce
J H
JH
D006801:Humans; D007231:Infant, Newborn; D008103:Liver Cirrhosis / Q000473:pathology; D008297:Male; D010181:Pancreatic Cyst / Q000473:pathology; D012779:Short Rib-Polydactyly Syndrome / Q000145:classification* / Q000473:pathology*; D009626:Terminology as Topic