Document Detail


Pseudoachondroplastic dysplasia.
MedLine Citation:
PMID:  8169872     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
A Khungar; P Mahajan; G Gupte; M Vasundhara; A Kher; B A Bharucha
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of postgraduate medicine     Volume:  39     ISSN:  0022-3859     ISO Abbreviation:  J Postgrad Med     Publication Date:    1993 Apr-Jun
Date Detail:
Created Date:  1994-05-27     Completed Date:  1994-05-27     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  2985196R     Medline TA:  J Postgrad Med     Country:  INDIA    
Other Details:
Languages:  eng     Pagination:  91-3     Citation Subset:  IM    
Affiliation:
Dept of Pediatrics, Seth GS Medical College, Bombay, Maharashtra.
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MeSH Terms
Descriptor/Qualifier:
Achondroplasia / complications,  diagnosis,  genetics
Child
Diagnosis, Differential
Diagnostic Errors
Dwarfism / complications*,  diagnosis,  genetics
Epiphyses / abnormalities
Female
Heterozygote
Humans
Osteochondrodysplasias / complications*,  diagnosis,  genetics
Rickets / diagnosis

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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