Apert综合征在单卵双胞胎中的可变表型表达。

Variable phenotypic expression of Apert syndrome in monozygotic twins.

作者信息

Dap Matthieu, Bach-Segura Pascale, Bertholdt Charline, Menzies Didier, Masutti Jean-Pierre, Klein Olivier, Perdriolle-Galet Estelle, Lambert Laetitia, Morel Olivier

机构信息

Department of Gynecology and Obstetrics CHRU de Nancy Nancy France.

Department of Perinatal Radiology and Imaging CHRU de Nancy Nancy France.

出版信息

Clin Case Rep. 2018 Nov 11;7(1):54-57. doi: 10.1002/ccr3.1915. eCollection 2019 Jan.

DOI:10.1002/ccr3.1915

PMID:30656008

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6333066/

Abstract

Apert syndrome in monozygotic twins can lead to different phenotypic expression of the disease in the two fetuses. Apert syndrome can be associated with congenital left diaphragmatic hernia and cleft palate.

摘要

单卵双胞胎中的Apert综合征可导致两个胎儿出现不同的疾病表型。Apert综合征可能与先天性左侧膈疝和腭裂有关。