Harper P S, Brotherton B J, Cochlin D
Clin Genet. 1976 Sep;10(3):178-82. doi: 10.1111/j.1399-0004.1976.tb00030.x.
A population study of Perthes' disease in South Wales over a 25-year period has shown a low risk of the disorder in relatives. The risk of Perthes' disease in sibs is under 1% (2 in 323), while the risk to children of an children of an affected parent is about 3% (1 in 35) when adjusted for age of onset. No increased risk was found in relatives of patients with bilateral as compared with unilateral Perthes' disease. A mating between two affected individuals resulted in monozygotic twins concordant for Perthes' disease, but no familial concentration to suggest the action of a single major gene was found. The importance of excluding generalised disorders which may mimic Perthes' disease and may show Mendelian inheritance is emphasised, but it is concluded that true Perthes' disease has a relatively minor genetic component.
一项对南威尔士地区25年间 Perthes 病的人群研究表明，亲属患该病的风险较低。同胞患 Perthes 病的风险低于1%（323人中2例），而患病父母的子女患该病的风险在根据发病年龄调整后约为3%（35人中1例）。与单侧 Perthes 病患者的亲属相比，双侧 Perthes 病患者的亲属未发现风险增加。两名患病个体之间的交配产生了患 Perthes 病的同卵双胞胎，但未发现家族聚集现象表明单个主要基因的作用。强调了排除可能模仿 Perthes 病并可能表现出孟德尔遗传的全身性疾病的重要性，但得出的结论是，真正的 Perthes 病具有相对较小的遗传成分。
