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Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and
A Raas-Rothschild1, A Nir, Z Ergaz
1The Roza and David Orzen Human Genetics Clinic, Department of Human Genetics, Jerusalem, Israel. annick@hadassah.org.il
American Journal of Medical Genetics
|May 26, 1999
Abstract:
We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral 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 reported. Clinical and genetic controversies of the tibial aplasia-ectrodactyly syndrome/Gollop-Wolfgang complex are discussed.