Peripheral dysplasia. Report of a new genetic syndrome

Pediatr Radiol. 1989;19(3):193-8. doi: 10.1007/BF02388655.

Abstract

A new, dominantly inherited form of peripheral dysplasia in three members of an Algerian family is reported. Two further individuals, not investigated, are also probably affected. The disease is characterised by distinctive clinico-radiological findings. A case of acromesomelic dysplasia of Maroteaux is also reported and the differential diagnosis of peripheral dysplasias is discussed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Body Height
  • Child
  • Diagnosis, Differential
  • Female
  • Genes, Dominant*
  • Humans
  • Intelligence
  • Male
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Radiography
  • Syndrome