| Literature DB >> 25478377 |
Kalyani R1, Prabhakar K1, Gopinath B2, Sheik Naseer B3, Krishnamurthy Ds4.
Abstract
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.Entities:
Keywords: Exostoses; India; Multiple hereditary exostoses
Year: 2014 PMID: 25478377 PMCID: PMC4253195 DOI: 10.7860/JCDR/2014/8228.4942
Source DB: PubMed Journal: J Clin Diagn Res ISSN: 0973-709X