Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset

Clin Dysmorphol. 2002 Oct;11(4):261-6. doi: 10.1097/00019605-200210000-00006.

Abstract

We report a family in which an apparently previously undescribed form of Spondyloepimetaphyseal dysplasia (SEMD) presented after probable gonadal mosaicism occurred and is inherited in an autosomal dominant mode. The other autosomal dominant SEMDs are compared.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child, Preschool
  • Collagen Type II / genetics
  • Family Health
  • Female
  • Genes, Dominant
  • Hip Joint / abnormalities
  • Humans
  • Knee Joint / abnormalities
  • Mosaicism / genetics*
  • Mosaicism / pathology*
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology*
  • Spine / abnormalities

Substances

  • COL2A1 protein, human
  • Collagen Type II