Plafki C, Luetke A, Willburger R E, Wittenberg R H, Steffen R
Marienkrankenhaus, Dept. of Orthopedic Surgery Düsseldorf, Germany.
Arch Orthop Trauma Surg. 2000;120(1-2):114-7. doi: 10.1007/pl00021230.
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.
本文介绍了一个欧洲家族，该家族连续五代人患有双侧马德隆畸形。男性和女性交替发病，提示常染色体显性遗传。尽管两名患者的身高处于正常范围下限，但由于缺乏侏儒症的其他迹象，无法明确诊断为软骨发育不全。马德隆畸形的病因可能难以确定。似乎存在一种独立于软骨发育不全完整综合征的遗传可能性。因此，遗传咨询总是很困难，必须考虑到从轻微疼痛和外观困扰到中度疼痛和功能障碍等各种各样的症状。
