Multiple Heriditary Exostoses in a Family for Three Generation of Indian Origin with Review of Literature
Published: October 1, 2014 | DOI: https://doi.org/10.7860/JCDR/2014/.4942
Kalyani R, Prabhakar K, Gopinath B, Sheik Naseer B, Krishnamurthy DS
1. Professor, Department of Pathology, Sri Devaraj Urs Medical College, Sri Devaraj Urs Academy of Higher Education and Research, Kolar, Karnataka, India.
2. Professor, Department of Pathology, Sri Devaraj Urs Medical College, Sri Devaraj Urs Academy of Higher Education and Research, Kolar, Karnataka, India.
3. Resident, Deparment of Medicine, Department of Pathology, Sri Devaraj Urs Medical College, Sri Devaraj Urs Academy of Higher Education and Research,
Kolar, Karnataka, India.
4. Professor of Orthopaedics, Department of Orthopaedics, Sri Devaraj Urs Medical College, Sri Devaraj Urs Academy of Higher Education and Research,
Kolar, Karnataka, India.
5. Scientific Adviser, Genome Lab, Genome Lab, Sri Devaraj Urs Medical College, Sri Devaraj Urs Academy of Higher Education and Research,
Kolar, Karnataka, India.
Correspondence
Dr. Kalyani. R.,
Department of Pathology, Sri Devaraj Urs Medical College,
Sri Devaraj Urs Academy of Higher Education and Research, Kolar, Karnataka, India.
Phone : 9448402775, E-mail : drkalyanir@rediffmail.com
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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