无甲症与远端指骨缺如/发育不全（库克综合征）：第二个家系报告
Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family.
作者信息
Nevin N C, Thomas P S, Eedy D J, Shepherd C
机构信息
Regional Genetics Centre, Belfast City Hospital Trust, UK.
出版信息
J Med Genet. 1995 Aug;32(8):638-41. doi: 10.1136/jmg.32.8.638.
Abstract
We describe a second family with four affected members in three successive generations with a rare nail dysplasia syndrome. The syndrome, which was first reported by Cooks et al in 1985, is characterised by bilateral nail hypoplasia of digits 1-3, with absence of nails of digits 4-5 of the hands, and total absence of all toe nails. In addition, there is absence/hypoplasia of the distal phalanges of the hands and feet. Our family confirms this syndrome as a distinct entity with autosomal dominant inheritance.
摘要
我们描述了一个三代中有四名患者的家族，他们患有一种罕见的指甲发育异常综合征。该综合征于1985年由库克等人首次报道，其特征为双侧第1至3指指甲发育不全，双手第4至5指无指甲，且所有脚趾甲完全缺失。此外，手足远端指骨存在缺失/发育不全。我们的家族证实了这种综合征是一种具有常染色体显性遗传的独特病症。
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