Multiple Heriditary Exostoses in a Family for Three Generation of Indian Origin with Review of Literature
Multiple hereditary exostoses (MHE) are an autosomal dominant disorder, consisting of multiple cartilage capped bone tumour arising from the metaphysis of long tubular bones. Mutations are seen in Exostosin-1 and Exostosin-2 genes. We present a family of MHE for three generations. The index case w...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2014-10-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/4942/8228_CE(Ra)_F(Sh)_PF1(PAK)_PFA(Sh).pdf |
| Summary: | Multiple hereditary exostoses (MHE) are an autosomal dominant disorder, consisting of multiple cartilage capped bone tumour arising
from the metaphysis of long tubular bones. Mutations are seen in Exostosin-1 and Exostosin-2 genes. We present a family of MHE for
three generations. The index case was a 10-year-old male presented with multiple exostoses in hand, forearm, leg, right knee and chest.
Family history revealed similar complaints in younger brother, father, paternal uncle, paternal aunt & her daughter and grandfather. |
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| ISSN: | 2249-782X 0973-709X |