A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)

Clin Dysmorphol. 2005 Jan;14(1):13-18.

Abstract

We report a father and son affected by spondylo-epi-metaphyseal dysplasia with multiple dislocations (Hall type), also called leptodactylic form. This family contributes to the delineation of the clinical and radiological phenotype of this rare condition.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Body Height
  • Foot Deformities, Congenital
  • Hand Deformities, Congenital
  • Humans
  • Infant
  • Male
  • Osteochondrodysplasias / diagnosis*