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VATER — tibia aplasia association: report on two patients

Spruijt, Liesbetha; Devriendt, Koenb; Offermans, Josc; Bulstra, Sjoerdd; Schrander-Stumpel, Connieae


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 Dysmorphol9:205–208] reported a similar patient with a VATER-tibia aplasia association.

aDepartments of Clinical Genetics

bCenter of Human Genetics, University Hospital Leuven, Leuven, Belgium

cDepartment of Gynecology

dOrthopedic-Surgery, Academic Hospital Maastricht, Maastricht, The Netherlands

eResearch Institute Growth & Development (GROW), Maastricht University

Correspondence to C.T.R.M. Schrander-Stumpel, MD, PhD, P.O. box 1475, 6201 BL Maastricht, The Netherlands

Tel: +31 43 387 5855; Fax: + 31 43 387 5800; E-mail:

Received: 29 August 2001 accepted: 4 June 2002

© 2002 Lippincott Williams & Wilkins, Inc.