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Pseudoachondroplastic dysplasia.

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.
AuthorsA Khungar, P Mahajan, G Gupte, M Vasundhara, A Kher, B A Bharucha
JournalJournal of postgraduate medicine (J Postgrad Med) 1993 Apr-Jun Vol. 39 Issue 2 Pg. 91-3 ISSN: 0022-3859 [Print] India
PMID8169872 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Achondroplasia (complications, diagnosis, genetics)
  • Child
  • Diagnosis, Differential
  • Diagnostic Errors
  • Dwarfism (complications, diagnosis, genetics)
  • Epiphyses (abnormalities)
  • Female
  • Heterozygote
  • Humans
  • Osteochondrodysplasias (complications, diagnosis, genetics)
  • Rickets (diagnosis)

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