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.
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Authors | A Khungar, P Mahajan, G Gupte, M Vasundhara, A Kher, B A Bharucha |
Journal | Journal of postgraduate medicine
(J Postgrad Med)
1993 Apr-Jun
Vol. 39
Issue 2
Pg. 91-3
ISSN: 0022-3859 [Print] India |
PMID | 8169872
(Publication Type: Case Reports, Journal Article, Review)
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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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