New findings in short rib syndrome

Am J Med Genet. 1993 May 15;46(3):255-9. doi: 10.1002/ajmg.1320460302.


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.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Infant, Newborn
  • Liver Cirrhosis / pathology
  • Male
  • Pancreatic Cyst / pathology
  • Short Rib-Polydactyly Syndrome / classification*
  • Short Rib-Polydactyly Syndrome / pathology*
  • Terminology as Topic*