Mubarak S J, Carroll N C
Clin Orthop Relat Res. 1979 May(140):131-6.
The autosomal dominant pattern of osteochondritis dissecans and association with mild dwarfism were observed during a study of 4 generations of one family. Twelve of 31 family members had proven osteochondritis dissecans and 8 others appeared to have or (now deceased) have had it; 10 of these 20 patients were of short stature (less than 5%). At the onset, children under 11 years of age had bilateral irregularities of ossification. Three of the 11 adolescents (13-19 years) had osteochondritis dissecans with development of the condition from irregularities of ossification that could be traced in the roentgenograph of one. Two of the 3 surviving adults now in their sixth or seventh decade have osteoarthritis (one moderate, one severe). The younger adults, now in the 20's and 40's, have minimal knee sysmptoms.
在对一个家族的四代人进行研究期间，观察到剥脱性骨软骨炎的常染色体显性遗传模式以及与轻度侏儒症的关联。31名家族成员中有12人被证实患有剥脱性骨软骨炎，另外8人似乎患有或（现已去世）曾患此病；这20名患者中有10人身材矮小（低于5%）。发病时，11岁以下儿童双侧骨化不规则。11名青少年（13 - 19岁）中有3人患有剥脱性骨软骨炎，病情发展源于骨化不规则，其中一人的X线片可追踪到这种情况。3名现存的六七十岁成年人中有2人患骨关节炎（一人中度，一人重度）。目前二三十岁和四五十岁的较年轻成年人膝关节症状轻微。
