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Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis: A New Inherited Syndrome

Published online by Cambridge University Press:  01 August 2014

L. Goeminne  and
L. Dujardin
L. Goeminne*
Affiliation:
Medical Clinic, and Department of Human Genetics, Ophthalmologic Clinic, University of Ghent
L. Dujardin
Affiliation:
Medical Clinic, and Department of Human Genetics, Ophthalmologic Clinic, University of Ghent
*
Clinique d'Ophtalmologie de l'Université, Gand, Belgium

Summary

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A kindred is described with a probably new inherited syndrome, involving bilateral congenital hip dysplasia with coxa vara, patella aplasia and tarsal synostosis. This association is probably inherited as an incomplete dominant trait, apparently as a result of a new mutation.

In this case a single pleiotropic gene might be held responsible for the multiple skeletal defects.

From a bibliographical review, it may be concluded that the nosological association of these multiple defects has never been published so far.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 19 , Issue 4 , October 1970 , pp. 534 - 545
Copyright
Copyright © The International Society for Twin Studies 1970

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