Kyphomelic dysplasia

J Med Genet. 1989 Jul;26(7):457-61. doi: 10.1136/jmg.26.7.457.


A case of kyphomelic dysplasia is reported in a boy followed up over three years. The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the femora, associated with short stature, bowing and shortening of other long bones, metaphyseal changes in infancy, flared ribs, small thoracic cage, and platyspondyly. The good prognosis regarding motor and intellectual development in this condition is stressed and the association with cleft lip and palate is described for the first time.

Publication types

  • Case Reports

MeSH terms

  • Bone Diseases, Developmental* / psychology
  • Child, Preschool
  • Femur / abnormalities
  • Femur / diagnostic imaging
  • Gait
  • Humans
  • Infant
  • Infant, Newborn
  • Intelligence
  • Male
  • Pelvis / abnormalities
  • Pelvis / diagnostic imaging
  • Radiography
  • Ribs / abnormalities
  • Ribs / diagnostic imaging
  • Syndrome