[并腿畸形作为VACTERL综合征的一部分：三例病例研究]

[Sirenomelia as a part of VACTERL association: a study of three cases].

作者信息

Charlier Philippe, Valat Anne-Sylvie, Boute Odile, Petit Stéphanie, Chafiotte Caroline, Huynh-Charlier Isabelle, Gosselin Bernard, Devisme Louise

机构信息

Service d'anatomie et de cytologie pathologiques, CHRU de Lille, avenue Oscar-Lambret, Lille cedex, France.

出版信息

Ann Pathol. 2008 Jun;28(3):176-81. doi: 10.1016/j.annpat.2008.06.001. Epub 2008 Jul 22.

DOI:10.1016/j.annpat.2008.06.001

PMID:18706355

Abstract

Sirenomelia, characterized by a fusion of lower limb buds, is rare. Moreover, the coexistence of this malformation with a VACTERL sequence is exceptional. We report, here, three new observations associating these two diseases on fetuses from 14 to 26 weeks gestation. With these three new cases associating sirenomelia and VACTERL, observed in our unit and examined in light of data from the medical literature, we discuss the embryologic origin of such malformations and the nosologic frontiers between these two diseases.

摘要

下肢联体畸形以下肢芽融合为特征，较为罕见。此外，这种畸形与VACTERL序列并存的情况更是罕见。在此，我们报告三例新病例，这些病例均为妊娠14至26周的胎儿同时患有这两种疾病。结合我们科室观察到的这三例下肢联体畸形与VACTERL序列并存的新病例，并参照医学文献中的数据进行分析，我们探讨了此类畸形的胚胎学起源以及这两种疾病之间的疾病分类界限。