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.

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