New findings in short rib syndrome

✍ Scribed by Cideciyan, Daniela ;Rodriguez, Maria M. ;Haun, Ronald L. ;Abdenour, George E. ;Bruce, Jocelyn H.

• Publisher: John Wiley and Sons
• Year: 1993
• Tongue: English
• Weight: 732 KB
• Volume: 46
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320460302

✦ Synopsis

Abstract

This white infant, born at 37 weeks of gestation, had a large cranium, bilateral an ophthalmia, a middline cleft lip and palate, hypoplastic chest with short ribs, slightly protuberant abdomen, short limbs, bilateral single transverse palmar creases, a single unbilical 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. © 1993 Wiley‐Liss, Inc.