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两代男性家庭成员患Legg-Calve-Perthes病:一例报告

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

作者信息

Al-Omran Ammar K, Sadat-Ali Mir

机构信息

Department of Orthopaedic Surgery, College of Medicine, University of Dammam, King Fahd Hospital of the University, Al-Khobar, Saudi Arabia.

出版信息

J Orthop Surg (Hong Kong). 2013 Aug;21(2):258-61. doi: 10.1177/230949901302100230.

DOI:10.1177/230949901302100230
PMID:24014797
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.

摘要

Legg-Calve-Perthes病(LCPD)是一种主要发生于男性儿童的股骨头缺血性坏死,可导致早期骨关节炎。我们报告了两代共4名具有LCPD样特征且12q13染色体上COL2A1基因发生突变的男性家庭成员。如果任何家庭成员发生LCPD,我们建议进行基因分析和咨询,并对相关儿童进行早期影像学筛查。

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