伴有结肠闭锁的弗雷泽隐眼综合征

Fraser-cryptophthalmos syndrome with colonic atresia.

作者信息

Narang Manish, Kumar Manish, Shah Dheeraj

机构信息

Department of Pediatrics, University College of Medical Sciences and Guru Tegh Bahadur Hospital, Dilshad Garden, Delhi, India.

出版信息

Indian J Pediatr. 2008 Feb;75(2):189-91. doi: 10.1007/s12098-008-0030-9.

DOI:10.1007/s12098-008-0030-9

PMID:18334805

Abstract

Fraser cryptophthalmos syndrome is a severe genetic disorder comprising of cryptophthalmos, syndactyly and genitourinary abnormalities. Gastrointestinal malformations are also increasingly being described. We describe a neonate with this syndrome having colonic atresia leading to cecal rupture and pneumoperitoneum.

摘要

弗雷泽隐眼综合征是一种严重的遗传性疾病，包括隐眼、并指（趾）畸形和泌尿生殖系统异常。胃肠道畸形的报道也越来越多。我们描述了一名患有该综合征的新生儿，其患有结肠闭锁，导致盲肠破裂和气腹。