Literature DB >> 2394820

Avascular necrosis of the capital femoral epiphysis in metachondromatosis.

D Keret1, G S Bassett.   

Abstract

A 6-year-old boy with metachondromatosis, an inherited disorder characterized by multiple enchondromas and exostoses, developed avascular necrosis of the capital femoral epiphysis mimicking Perthes disease. Despite containment, significant coxa magna occurred with flattening and lateral extrusion, requiring intertrochanteric osteotomy and shelf augmentation.

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Year:  1990        PMID： 2394820     DOI： 10.1097/01241398-199009000-00017

Source DB:  PubMed          Journal:  J Pediatr Orthop        ISSN： 0271-6798            Impact factor:   2.324


  6 in total

1.  EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.

Authors:  Neil C Vining; Stephen Done; Ian A Glass; Shawn E Parnell; Darci L Sternen; Kathleen A Leppig; Vincent S Mosca; Michael J Goldberg
Journal:  Skeletal Radiol       Date:  2011-09-04       Impact factor: 2.199

Review 2.  Enchondromatosis: insights on the different subtypes.

Authors:  Twinkal C Pansuriya; Herman M Kroon; Judith V M G Bovée
Journal:  Int J Clin Exp Pathol       Date:  2010-06-26

3.  Metachondromatosis: more than just multiple osteochondromas.

Authors:  Thomas J Fisher; Nicole Williams; Lloyd Morris; Peter J Cundy
Journal:  J Child Orthop       Date:  2013-09-21       Impact factor: 1.548

4.  Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

Authors:  Margot E Bowen; Eric D Boyden; Ingrid A Holm; Belinda Campos-Xavier; Luisa Bonafé; Andrea Superti-Furga; Shiro Ikegawa; Valerie Cormier-Daire; Judith V Bovée; Twinkal C Pansuriya; Sérgio B de Sousa; Ravi Savarirayan; Elena Andreucci; Miikka Vikkula; Livia Garavelli; Caroline Pottinger; Toshihiko Ogino; Akinori Sakai; Bianca M Regazzoni; Wim Wuyts; Luca Sangiorgi; Elena Pedrini; Mei Zhu; Harry P Kozakewich; James R Kasser; Jon G Seidman; Kyle C Kurek; Matthew L Warman
Journal:  PLoS Genet       Date:  2011-04-14       Impact factor: 5.917

5.  Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report.

Authors:  Zi Wang; Yuting Zou; Yu Chen; Yue Chen
Journal:  Medicine (Baltimore)       Date:  2018-04       Impact factor: 1.889

6.  From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis.

Authors:  Wentian Yang; Benjamin G Neel
Journal:  Rare Dis       Date:  2013-10-02
  6 in total

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