Literature DB >> 9133359

Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864.

T E Herman1, A Chines, W H McAlister, G S Gottesman, M C Eddy, M P Whyte.   

Abstract

Four members of a family - three of whom have facial features mildly resembling those of the trichorhinophalangeal syndrome, type I, and all of whom manifested appendicular bony prominences similar to trichorhinophalangeal syndrome, type II - were found to have the radiographic findings of metachondromatosis. The radiographic manifestations and evolution of metachondromatosis are depicted in this report.

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Mesh:

Year:  1997        PMID: 9133359     DOI: 10.1007/s002470050164

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  5 in total

1.  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

2.  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

Review 3.  An unusual example of hereditary multiple exostoses: a case report and review of the literature.

Authors:  Rebecca Chilvers; James A Gallagher; Nathan Jeffery; Alistair P Bond
Journal:  BMC Musculoskelet Disord       Date:  2021-01-21       Impact factor: 2.362

Review 4.  Update on the imaging features of the enchondromatosis syndromes.

Authors:  Ban Sharif; Daniel Lindsay; Asif Saifuddin
Journal:  Skeletal Radiol       Date:  2021-07-24       Impact factor: 2.199

Review 5.  Multiple osteochondromas.

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

  5 in total

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