Open AccessA Report of an Indian Boy with a Delayed Diagnosis of Pseudochondroplasia
Author(s) -
Ankur Singh,
Thangaraj Abiramalatha,
Gaurav Pradhan,
Dong Kyu Jin,
Seema Kapoor
Publication year - 2013
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2013/5410.3167
Subject(s) - cartilage oligomeric matrix protein , osteochondrodysplasia , radiological weapon , medicine , cartilage , pathology , anatomy , radiology , osteoarthritis , alternative medicine
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.