Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia

Clin Genet. 2000 Nov;58(5):390-5. doi: 10.1034/j.1399-0004.2000.580510.x.

Abstract

Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this disorder. The differential diagnoses of prenatal and perinatal semilethal skeletal dysplasias and salient features of documented cases of kyphomelic dysplasia are presented.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Bone Diseases, Developmental* / diagnostic imaging
  • Female
  • Fetus / abnormalities*
  • Humans
  • Radiography
  • Ultrasonography