Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

Authors
Raas-Rothschild, A Nir, A Ergaz, Z Bar Ziv, J Rein, AJJT
Citation
A. Raas-rothschild et al., Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities, AM J MED G, 84(4), 1999, pp. 361-364
Citations number
15
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
84
Issue
4
Year of publication
1999
Pages
361 - 364
Database
ISI
SICI code
0148-7299(19990604)84:4<361:AOTWEC>2.0.ZU;2-E
Abstract
We report on a child with bifid femur, absent tibiae, hypoplastic hallux, b ilateral club feet, congenital heart defects, and segmentation anomalies of the spine and ribs. Parents are consanguineous, from a region where other consanguineous families with similarly affected individuals have been repor ted. Clinical and genetic controversies of the tibial aplasia-ectrodactyly syndrome/Gollop-Wolfgang complex are discussed. (C) 1999 Wiley-Liss, Inc.