[Genetic study of eight cases of spondylo-epiphyseal dysplasia tarda and its autosomal recessive transmission]

J Genet Hum. 1986 Aug;34(3-4):275-84.
[Article in French]

Abstract

Spondylo-epiphyseal dysplasia tarda is an hereditary disease of bone first described by Maroteaux in 1957. The disease affects only boys, then is transmitted on X-linked recessive pattern. The authors describe two tunisians families with 8 patients presenting clinical and radiologic symptoms resembling spondylo-epiphyseal dysplasia tarda but affecting both sexes. Autosomal recessive inheritance is probable in these families. Conclusion is that genetic heterogeneity of the disease must be precise.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Genes, Recessive*
  • Humans
  • Male
  • Middle Aged
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Radiography
  • X Chromosome