男孩先天性膈疝合并白化病 1 例

A unique case of a congenital diaphragmatic hernia in a boy with albinism.

机构信息

Department of Cardiothoracic Surgery and ECMO, Glenfield Hospital, LE3 9QP Leicester, UK.

出版信息

J Pediatr Surg. 2009 Dec;44(12):e21-2. doi: 10.1016/j.jpedsurg.2009.09.028.

DOI:10.1016/j.jpedsurg.2009.09.028

PMID:20005999

Abstract

Congenital diaphragmatic hernia and oculocutaneous albinism are both rare birth defects that can be diagnosed in the newborn period. However, they have not been previously reported to have occurred together. This report describes a unique case of a male Asian baby with oculocutaneous albinism and a right-sided congenital diaphragmatic hernia.

摘要

先天性膈疝和眼皮肤白化病都是罕见的出生缺陷，可以在新生儿期诊断。然而，它们以前从未被报道同时发生。本报告描述了一例独特的男性亚洲婴儿，患有眼皮肤白化病和右侧先天性膈疝。