Autosomal dominant inheritance of spondyloenchondrodysplasia

Am J Med Genet A. 2005 Jun 15;135(3):282-8. doi: 10.1002/ajmg.a.30732.

Abstract

Spondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an autosomal recessive condition. A mother and son are reported with typical features of spondyloenchondrodysplasia. Their similar radiographic and MRI findings are presented. The radiologic appearance of the spine changed over time, illustrating the evolving phenotype of this condition. Transmission from mother to son suggests that dominant pattern of inheritance is possible. A classification of the enchondromatoses is discussed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Child
  • Family Health
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Lumbar Vertebrae / abnormalities
  • Lumbar Vertebrae / diagnostic imaging
  • Male
  • Osteochondrodysplasias / genetics*
  • Radiography