Bilateral Madelung’s deformity without signs of dyschondrosteosis within five generations in a European family – case report and review of the literature

Abstract

The paper presents a European family showing bilateral Madelung’s deformity within five consecutive generations. Females as well as males are affected alternately indicating autosomal dominant inheritance. Despite of a body height within the lower normal range in two patients the diagnosis of dyschondrosteosis could not be clearly established as further hints for dwarfism are missing. The etiology of Madelung’s deformity may be difficult to establish. There seems to be the possibility of an inheritance independent from the complete syndroma of dyschondrosteosis. Therefore the genetic counselling will always be difficult and has to regard the wide variety of symptoms ranging from little pain and cosmetic disturbance to moderate pain and functional impairment.