Patterson-Lowry rhizomelic dysplasia: a possible second example

Clin Dysmorphol. 1995 Jul;4(3):216-21.

Abstract

We present a possible example of Patterson-Lowry rhizomelic dysplasia. If so, this is only the second reported individual with this disorder and the first instance of its recognition in a child. Clinical features in this child are compared with the other described individual and differential diagnosis is discussed. Primary features include rhizomelic foreshortening most markedly affecting the arms, limitation of shoulder abduction, mild generalized foreshortening of the long bones, mild short stature, coxa vara, and specific radiological features.

Publication types

  • Case Reports

MeSH terms

  • Body Height
  • Bone and Bones / diagnostic imaging
  • Bone and Bones / pathology
  • Child, Preschool
  • Forearm / abnormalities
  • Head / abnormalities
  • Humans
  • Male
  • Osteochondrodysplasias / pathology*
  • Radiography