Saul R A, Lee W H, Stevenson R E
Am J Dis Child. 1982 Jan;136(1):55-60.
A family with six members affected with Caffey's disease (infantile cortical hyperostosis) demonstrates marked variability in expression and incomplete penetrance for this autosomal dominant condition. Twenty-five additional instances of familial Caffey's disease (with a total of 104 persons affected) are reviewed. From the 1940s to 1960s, sporadic cases of Caffey's disease occurred more commonly than did familial cases and probably represented environmentally produced phenocopies. Such isolated cases are rarely seen today. FAmilial Caffey's disease differs in several aspects from the sporadic type, having an earlier onset of disease (24% at birth), less frequent mandibular involvement, and more frequent lower-extremity involvement. Cases of Caffey's disease detected today should have appropriate radiologic testing of other family members to search for evidence of disease. Prompt recognition allows for conservative management of this usually self-limited condition.
一个有六名成员患卡菲病（婴儿骨皮质增生症）的家族显示出这种常染色体显性遗传病在表达上有显著变异性且外显不全。另外回顾了25例家族性卡菲病（共涉及104人患病）。从20世纪40年代到60年代，散发性卡菲病病例比家族性病例更常见，可能代表了环境因素导致的拟表型。如今这种孤立病例很少见。家族性卡菲病在几个方面与散发性类型不同，发病更早（24%在出生时发病），下颌受累较少，下肢受累更频繁。如今检测出的卡菲病病例应对其他家庭成员进行适当的放射学检查以寻找患病证据。及时识别有助于对这种通常自限性疾病进行保守治疗。
