VATER-胫骨发育不全综合征：两例患者报告

VATER--tibia aplasia association: report on two patients.

作者信息

Spruijt Liesbeth, Devriendt Koen, Offermans Jos, Bulstra Sjoerd, Schrander-Stumpel Connie

机构信息

Departments of Clinical Genetics, University Hospital Leuven, Leuven, Belgium.

出版信息

Clin Dysmorphol. 2002 Oct;11(4):283-7. doi: 10.1097/00019605-200210000-00010.

DOI:10.1097/00019605-200210000-00010

PMID:12401995

Abstract

We report two patients with oesophageal atresia, tracheo-oesophageal fistula and unilateral tibial aplasia. The karyotype in both patients was normal and both cases were sporadic. The congenital defects of the children can be regarded as an uncommon variant of VA(C)TER(L) association. Recently Basel and Goldblatt [(2000) Clin Dysmorphol 9:205-208] reported a similar patient with a VATER-tibia aplasia association.

摘要

我们报告了两名患有食管闭锁、气管食管瘘和单侧胫骨发育不全的患者。两名患者的核型均正常，且均为散发病例。儿童的先天性缺陷可被视为VA(C)TER(L)综合征的一种罕见变异型。最近，巴塞尔和戈德布拉特[(2000年)《临床畸形学》9:205 - 208]报告了一名患有VATER-胫骨发育不全综合征的类似患者。