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亨内坎综合征:一例报告。

Hennekam Syndrome: A Case Report.

作者信息

Lee Yeong Guk, Kim Seung Chan, Park Si-Bog, Kim Mi Jung

机构信息

Department of Rehabilitation Medicine, Hanyang University College of Medicine, Seoul, Korea.

出版信息

Ann Rehabil Med. 2018 Feb;42(1):184-188. doi: 10.5535/arm.2018.42.1.184. Epub 2018 Feb 28.

Abstract

Hennekam syndrome is a rare autosomal recessive disorder resulting from malformation of the lymphatic system. The characteristic signs of Hennekam syndrome are lymphangiectasia, lymph edema, facial anomalies, and mental retardation. This is a case in which a patient presented with left-arm lymphedema, facial-feature anomalies, and multiple organ lymphangiectasia consistent with symptoms of Hennekam syndrome. There is no curative therapy at this time, but rehabilitative treatments including complete decongestive therapy for edema control appeared to be beneficial.

摘要

亨内坎综合征是一种由淋巴系统畸形引起的罕见常染色体隐性疾病。亨内坎综合征的特征性体征为淋巴管扩张、淋巴水肿、面部畸形和智力发育迟缓。这是一例患者出现与亨内坎综合征症状相符的左臂淋巴水肿、面部特征异常和多器官淋巴管扩张的病例。目前尚无治愈性疗法,但包括用于控制水肿的完全减压疗法在内的康复治疗似乎有益。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8411/5852224/4973493f31d9/arm-42-184-g001.jpg

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本文引用的文献

1
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
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