Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta

Am J Med Genet. 1991 May 1;39(2):170-2. doi: 10.1002/ajmg.1320390211.

Abstract

We report a 3 1/2-year-old boy with a unique spondylometaphyseal dysplasia with predominantly mesomelic involvement. In addition, he had gross generalised joint laxity and dentinogenesis imperfecta.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Dentinogenesis Imperfecta / genetics*
  • Dwarfism / genetics*
  • Humans
  • Joint Instability / genetics*
  • Male
  • Osteochondrodysplasias / genetics*
  • Syndrome