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A report of an Indian boy with a delayed diagnosis of pseudochondroplasia.

Authors
Type
Published Article
Journal
JOURNAL FOR CLINICAL AND DIAGNOSTIC RESEARCH
2249-782X
Publisher
JCDR Research and Publications
Publication Date
Volume
7
Issue
7
Pages
1479–1481
Identifiers
DOI: 10.7860/JCDR/2013/5410.3167
PMID: 23998101
Source
Medline
Keywords
  • Comp Gene
  • Multiple Epiphyseal Dysplasia
  • Pseudochondroplasia

Abstract

THE MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP) GENE ARE ASSOCIATED TWO COMMON AND ALLELIC BONY DYSPLASIAS: Psuedoachondroplasia (PSACH) and Multiple epiphyseal dysplasias-1 (MED-1). The characteristic radiological features of both has been well established in the literature, with areas of overlap between the two in certain forms of mild PSACH and severe MED. MED is also a genotypically and a phenotypically heterogeneous disease. Here, we emphasise the salient radiological features which aid in the diagnosis of PSACH and COMP MED; which may enable a targeted molecular analysis.

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