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

Abstract

SummaryA 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.