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

✍ Scribed by Raas-Rothschild, A.; Nir, A.; Ergaz, Z.; Bar Ziv, J.; Rein, A.J.J.T.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 12 KB
Volume: 84
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990604)84:4<361::aid-ajmg10>3.0.co;2-o

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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