Stieglitz J B, Centerwall W R
Am J Med Genet. 1983 Jan;14(1):21-8. doi: 10.1002/ajmg.1320140105.
Pachyonychia Congenita (PC) is an autosomal dominant syndrome of thick nails and other epithelial defects. A hospitalization for severe respiratory distress in a 3-year-old boy with PC and an affected father led to the discovery of 17 affected persons in a kindred spanning four generations. Nine relatives had varying degrees of upper respiratory tract obstruction, and eleven had dental aberrations. We review PC and discuss other unusual findings in this kindred, ie, arthritis in four affected relatives and a discrepancy between expected and observed ratios of affected to unaffected offspring of mothers with PC.
先天性厚甲症（PC）是一种常染色体显性综合征，其特征为指甲增厚及其他上皮缺陷。一名患有PC的3岁男孩因严重呼吸窘迫住院，其父亲也患病，这使得在一个跨越四代的家族中发现了17名患者。9名亲属有不同程度的上呼吸道梗阻，11名有牙齿异常。我们回顾了先天性厚甲症，并讨论了该家族中的其他异常发现，即4名患病亲属患有关节炎，以及患有PC的母亲所生的患病与未患病后代的预期比例与观察比例之间存在差异。
