A Report of an Indian Boy with a Delayed Diagnosis of Pseudochondroplasia
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, wit...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2013-07-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/3167/59%20-%205410_PF1(M)_E(C)_F(T)_F1(V)_F1(T)_PF1(PUH)_PFA(H)_1.pdf |
| Summary: | 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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| ISSN: | 2249-782X 0973-709X |