Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome

Am J Med Genet. 1991 Jun 1;39(3):243-6. doi: 10.1002/ajmg.1320390302.

Abstract

A male fetus with short rib (polydactyly) syndrome, Beemer-Langer type was aborted at 30 weeks' gestation because of abnormalities visualized on sonography. This is the first documented case with polydactyly in this recently defined entity. The clinical, radiological, and pathological findings, especially of the bones, are described. The differential diagnosis of this entity is discussed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Pregnancy
  • Ribs / pathology
  • Short Rib-Polydactyly Syndrome / classification
  • Short Rib-Polydactyly Syndrome / diagnosis*
  • Short Rib-Polydactyly Syndrome / genetics