肠道淋巴管扩张症、淋巴水肿、智力发育迟缓及典型面容：亨内坎综合征的确诊

Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome.

作者信息

Gabrielli O, Catassi C, Carlucci A, Coppa G V, Giorgi P

机构信息

Department of Pediatrics, University of Ancona, Italy.

出版信息

Am J Med Genet. 1991 Aug 1;40(2):244-7. doi: 10.1002/ajmg.1320400223.

DOI:10.1002/ajmg.1320400223

PMID:1897580

Abstract

We report on a male with intestinal lymphangiectasia, mild mental retardation, seizures, and a typical face; the syndrome was first delineated by Hennekam et al., Am. J. Med. Genet. 34:593-600 [1989]. His parents are consanguineous. This case seems to confirm the existence of the Hennekam syndrome.

摘要

我们报告了一名患有肠道淋巴管扩张症、轻度智力障碍、癫痫发作且面容典型的男性；该综合征最初由亨内卡姆等人在《美国医学遗传学杂志》第34卷第593 - 600页（1989年）中描述。他的父母是近亲结婚。该病例似乎证实了亨内卡姆综合征的存在。