Lethal kyphomelic dysplasia

J Paediatr Child Health. 1996 Apr;32(2):188-90. doi: 10.1111/j.1440-1754.1996.tb00920.x.

Abstract

A lethal form of kyphomelic dysplasia with severe bowing of the long bones of the lower extremities is reported.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Fetal Death / etiology
  • Humans
  • Infant, Newborn
  • Male
  • Radiography
  • Thanatophoric Dysplasia / diagnostic imaging*
  • Thanatophoric Dysplasia / genetics
  • Thanatophoric Dysplasia / pathology