科妮莉亚·德朗热综合征：一名患有肛门闭锁和NIPBL突变的新生儿。

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation.

作者信息

Mende Rose H, Drake David P, Olomi Raimos M, Hamel Ben C J

机构信息

Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, Tanzania ; Department of Paediatrics and Child Health, Kilimanjaro Christian Medical University College, P.O. Box 2240, Moshi, Tanzania.

出版信息

Case Rep Genet. 2012;2012:247683. doi: 10.1155/2012/247683. Epub 2012 Dec 10.

DOI:10.1155/2012/247683

PMID:23304577

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3529426/

Abstract

Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality. We report on a newborn with a molecularly confirmed Cornelia de Lange syndrome who had an imperforate anus. This is the third report of Cornelia de Lange syndrome and imperforate anus.

摘要

科妮莉亚·德·朗格综合征是一种具有多种先天性异常和发育迟缓的显性遗传、基因异质性且临床症状多变的综合征。胃肠道异常很常见，是发病和死亡的重要原因。我们报告了一名经分子确诊为科妮莉亚·德·朗格综合征且患有肛门闭锁的新生儿。这是关于科妮莉亚·德·朗格综合征与肛门闭锁的第三例报告。