Literature DB >> 25478377

Multiple heriditary exostoses in a family for three generation of Indian origin with review of literature.

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


  7 in total

1.  Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin.

Authors:  Vanita Vanita; Karl Sperling; Hardas Singh Sandhu; Parvinder Singh Sandhu; Jai Rup Singh
Journal:  Genet Test Mol Biomarkers       Date:  2009-02

2.  Cervical osteochondroma presenting as brown-sequard syndrome in a child with hereditary multiple exostosis.

Authors:  In-Ho Han; Sung-Uk Kuh
Journal:  J Korean Neurosurg Soc       Date:  2009-05-31

3.  Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.

Authors:  Liesbeth Hameetman; Judith Vmg Bovée; Antonie Hm Taminiau; Herman M Kroon; Pancras Cw Hogendoorn
Journal:  Hered Cancer Clin Pract       Date:  2004-11-15       Impact factor: 2.857

4.  Secondary Chondrosarcoma of the Lumbosacral Region: Are any Bones Spared in the Multiple Hereditary Exostoses?

Authors:  Hemalatha Anantharamaiah; R Kalyani; Harendra Kumar M L; Manohar P V
Journal:  J Clin Diagn Res       Date:  2012-12-15

Review 5.  Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

Authors:  Ivy Jennes; Elena Pedrini; Monia Zuntini; Marina Mordenti; Sahila Balkassmi; Carla G Asteggiano; Brett Casey; Bert Bakker; Luca Sangiorgi; Wim Wuyts
Journal:  Hum Mutat       Date:  2009-12       Impact factor: 4.878

Review 6.  Hereditary multiple exostoses and enchondromatosis.

Authors:  Stéphanie Pannier; Laurence Legeai-Mallet
Journal:  Best Pract Res Clin Rheumatol       Date:  2008-03       Impact factor: 4.098

Review 7.  Multiple osteochondromas.

Authors:  Judith V M G Bovée
Journal:  Orphanet J Rare Dis       Date:  2008-02-13       Impact factor: 4.123

  7 in total
  1 in total

1.  Concomitant neurogenic and vascular thoracic outlet syndrome due to multiple exostoses.

Authors:  Hosseinali Abdolrazaghi; Azade Riyahi; Morteza Taghavi; Pezhman Farshidmehr; Abolfazl Mohammadbeigi
Journal:  Ann Card Anaesth       Date:  2018 Jan-Mar
  1 in total

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