Pycnodysostosis in a Pakistani family: case presentation and review

Scott Med J. 1985 Jan;30(1):35-9. doi: 10.1177/003693308503000108.

Abstract

Pycnodysostosis is described for the first time in a Pakistani family. Two cases are presented and are contrasted with cases of osteopetrosis seen in this hospital over a twenty year period. The possibility of confusion with osteopetrosis is indicated and discussed.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Diagnosis, Differential
  • Dysostoses / diagnosis
  • Dysostoses / genetics*
  • Female
  • Humans
  • Infant
  • Orofaciodigital Syndromes / diagnosis
  • Orofaciodigital Syndromes / genetics
  • Osteopetrosis / diagnosis
  • Pakistan / ethnology
  • Pedigree
  • Scotland