title: A report of an Indian boy with a delayed diagnosis of 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.
authors.affiliation: Senior Research Associate, MAMC Associated Lok Nayak Hospital , New Delhi, India .
authors.forename: Ankur
authors.initials: A
authors.lastname: Singh
authors.forename: T
authors.initials: T
authors.lastname: Abiramalatha
authors.forename: Gaurav
authors.initials: G
authors.lastname: Pradhan
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
keywords: COMP gene; Multiple Epiphyseal Dysplasia; Pseudochondroplasia