两名患有埃斯科巴综合征且CHRNG基因纯合突变的兄弟姐妹的骨科表现及治疗结果

Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene.

作者信息

Sung Ki Hyuk, Lee Sang-Heon, Kim Namshin, Cho Tae-Joon

机构信息

aDepartment of Orthopaedic Surgery, Myongji Hospital, Kyungki bDepartment of Bioinformatics, Korea University of Science and Technology cKorean Bioinformation Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon dDivision of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Korea.

出版信息

J Pediatr Orthop B. 2015 May;24(3):262-7. doi: 10.1097/BPB.0000000000000119.

DOI:10.1097/BPB.0000000000000119

PMID:25411939

Abstract

Escobar syndrome is a nonlethal subtype of multiple pterygium syndromes, characterized by webbing across the joints, congenital joint contracture, facial dysmorphism and a variety of other congenital anomalies. We report orthopaedic manifestation and the treatment outcome of two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene.

摘要

埃斯科瓦尔综合征是多翼状胬肉综合征的一种非致死性亚型，其特征为关节处有蹼、先天性关节挛缩、面部畸形以及多种其他先天性异常。我们报告了两名因CHRNG基因纯合突变导致埃斯科瓦尔综合征的同胞兄妹的骨科表现及治疗结果。