An autosomal recessive variant of spondylo-epiphyseal dysplasia in three sibs

Pediatr Radiol. 1992;22(2):83-6. doi: 10.1007/BF02011299.

Abstract

A report of one male and two female sibs with an unusual form of spondylo-epiphyseal dysplasia (SED) manifesting in late childhood. The anomalies are pronounced at the femoral head. There is platyspondyly with biconcave deformation and irregular vertebral end-plates. As the parents are healthy autosomal recessive inheritance is likely.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Radiography