New findings in short rib syndrome

D. Cideciyan, M. M. Rodriguez, R. L. Haun, G. E. Abdenour, J. H. Bruce

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)255-259
Number of pages5
JournalAmerican journal of medical genetics
Issue number3
StatePublished - Jan 1 1993


  • ambiguous genitalia
  • anophthalmia
  • cleft lip/palate
  • congenital hepatic fibrosis
  • pancreatic cystic dysplasia
  • perinatal death
  • pulmonary hypoplasia
  • renal dysplasia and short rib syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


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