Pseudoachondroplastic dysplasia

J Postgrad Med. 1993 Apr-Jun;39(2):91-3.

Abstract

Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. A review of literature is also presented.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Achondroplasia / complications
  • Achondroplasia / diagnosis
  • Achondroplasia / genetics
  • Child
  • Diagnosis, Differential
  • Diagnostic Errors
  • Dwarfism / complications*
  • Dwarfism / diagnosis
  • Dwarfism / genetics
  • Epiphyses / abnormalities
  • Female
  • Heterozygote
  • Humans
  • Osteochondrodysplasias / complications*
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics
  • Rickets / diagnosis