Epiphysiolysis capitis femoris mit wahrscheinlieh unregelmäßig dominantem Erbgang Bericht über eine Familie mit 10 Fällen

Abstract

Ten members of a family suffered from slipped capital femoral epiphyses (ECF), and two further descendants had coxarthrosis possibly following subclinical course of an ECF. This pedigree is suggestive for a dominant inheritance with variable penetrance. Besides a few families with more than two affected members, almost 95% of the cases in the literature occur sporadically, many of these probably representing phenocopies. In view of the recurrence risk (at least 5% in sporadic cases), genetic counseling of the parents of any patient is Show more