Literature DB >> 24014797

Legg-Calve-Perthes disease in two generations of male family members: a case report.

Ammar K Al-Omran1, Mir Sadat-Ali.   

Abstract

Legg-Calve-Perthes disease (LCPD) is a type of avascular necrosis of the femoral head occurring mainly in male children and causing early osteoarthritis. We report 2 generations of 4 male family members with LCPD-like features and mutation of the COL2A1 gene of the 12q13 chromosome. If LCPD occurs in any family member, we recommend genetic analysis and counselling as well as early radiological screening of related children.

Entities:  

Keywords:  Legg-Calve-Pertheszzm321990disease; femur head necrosis; mutations

Mesh：

Substances：

Year:  2013        PMID： 24014797     DOI： 10.1177/230949901302100230

Source DB:  PubMed          Journal:  J Orthop Surg (Hong Kong)        ISSN： 1022-5536            Impact factor:   1.118


  9 in total

1.  Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.

Authors:  Vinod Dasa; James R B Eastwood; Michal Podgorski; Heewon Park; Christopher Blackstock; Tetyana Antoshchenko; Piotr Rogala; Tadeusz Bieganski; S Michal Jazwinski; Malwina Czarny-Ratajczak
Journal:  Am J Med Genet A       Date:  2019-02-10       Impact factor: 2.802

Review 2.  Evolution in diagnosis and treatment of Legg-Calve-Perthes disease.

Authors:  Seyed Mahdi Mazloumi; Mohammad H Ebrahimzadeh; Amir Reza Kachooei
Journal:  Arch Bone Jt Surg       Date:  2014-06-15

3.  Association of eNOS 27-bp VNTR, 894G>T and 786T>C polymorphisms with susceptibility to Legg-Calve-Perthes Disease in Iranian children.

Authors:  Mohammad Reza Azarpira; Mohammad Mahdi Ghilian; Mohammad Reza Sobhan; Masoud Mahdinezhad-Yazdi; Kazem Aghili; Hossein Ahrar; Hossein Neamatzadeh
Journal:  J Orthop       Date:  2019-02-26

4.  Association of MTHFR and TNF-α genes polymorphisms with susceptibility to Legg-Calve-Perthes disease in Iranian children: A case-control study.

Authors:  Mohammad Reza Azarpira; Mohammad Mahdi Ghilian; Mohammad Reza Sobhan; Masoud Mehdinezhad-Yazdi; Kazem Aghili; Seyed Mohsen Miresmaeili; Hossein Neamatzadeh
Journal:  J Orthop       Date:  2018-09-07

Review 5.  Surgical Treatments for Legg-Calvé-Perthes Disease: Comprehensive Review.

Authors:  Arash Maleki; Seyyed Mohammad Qoreishy; Mohammad Nabi Bahrami
Journal:  Interact J Med Res       Date:  2021-05-03

6.  Association of MTHFR rs1801133 and homocysteine with Legg-Calvé-Perthes disease in Mexican patients.

Authors:  José Guillermo Buendía-Pazarán; Edgar Hernández-Zamora; Armando O Rodríguez-Olivas; Leonora Casas-Ávila; Margarita Valdés-Flores; Elba Reyes-Maldonado
Journal:  Orphanet J Rare Dis       Date:  2022-03-09       Impact factor: 4.123

Review 7.  Legg-Calvé-Perthes disease overview.

Authors:  Armando O Rodríguez-Olivas; Edgar Hernández-Zamora; Elba Reyes-Maldonado
Journal:  Orphanet J Rare Dis       Date:  2022-03-15       Impact factor: 4.123

8.  The presentation of Legg-Calvé-Perthes disease in females.

Authors:  Andrew G Georgiadis; Mark A Seeley; Joseph L Yellin; Wudbhav N Sankar
Journal:  J Child Orthop       Date:  2015-07-26       Impact factor: 1.548

9.  COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report.

Authors:  Fang Liu; Zhizheng Xiong; Qi Liu; Jinxi Hu; Wenhua Li; Na Zhang
Journal:  Mol Med Rep       Date:  2018-05-07       Impact factor: 2.952
  9 in total

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