帕利斯特-霍尔综合征中的先天性巨结肠和肛门闭锁：一种新的关联。

Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association.

作者信息

Haynes Jeffrey H, Bagwell Charles E

机构信息

Division of Pediatric Surgery, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA 23298-0015, USA.

出版信息

J Pediatr Surg. 2003 Sep;38(9):1411-2. doi: 10.1016/s0022-3468(03)00411-1.

DOI:10.1016/s0022-3468(03)00411-1

PMID:14523835

Abstract

Hirschprung's disease and imperforate anus are described concurrently in a newborn with Pallister-Hall syndrome as well as the difficulties in making this diagnosis. Awareness of this new association should prompt the exclusion of Hirschprung's disease before repair of imperforate anus in infants with Pallister-Hall syndrome. The known genetic parallels between these conditions is discussed briefly in terms of etiology.

摘要

一名患有帕利斯特-霍尔综合征的新生儿同时被诊断出患有先天性巨结肠和肛门闭锁，以及做出该诊断时所面临的困难。认识到这种新的关联，应促使在对患有帕利斯特-霍尔综合征的婴儿进行肛门闭锁修复之前排除先天性巨结肠。本文简要讨论了这些病症在病因方面已知的遗传相似性。