阿佩尔综合征：警惕“问题”髋关节！
Apert syndrome: Be aware of the 'dodgy' hip!
作者信息
Khan Shehzaad Aziz, Moores Thomas Steven, Docker Charles
机构信息
Trauma and Orthopaedics, Royal Stoke University Hospital, Stoke-on-Trent, UK.
Trauma and Orthopaedics, Worcester Royal Hospital, Worcester, UK.
出版信息
BMJ Case Rep. 2018 Jul 3;2018:bcr-2017-221789. doi: 10.1136/bcr-2017-221789.
Abstract
Apert syndrome is a rare congenital disorder characterised by craniosynostosis, midface hypoplasia and syndactyly of hands and feet. Here we present a case of a 44-year-old woman, with a genetic diagnosis of Apert syndrome from birth, who presented with symptomatic left-sided hip osteoarthritis secondary to femoral abnormalities. She proceeded to have a total hip replacement. This case report describes the rare occurrence to identify a possible association between Apert syndrome and hip abnormalities.
摘要
阿佩尔综合征是一种罕见的先天性疾病，其特征为颅缝早闭、面中部发育不全以及手足并指（趾）畸形。在此，我们报告一例44岁女性病例，该患者自出生起即被基因诊断为阿佩尔综合征，因股骨异常继发出现有症状的左侧髋骨关节炎。她接受了全髋关节置换术。本病例报告描述了这一罕见情况，以确定阿佩尔综合征与髋部异常之间可能存在的关联。
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