一种伴有甲甲畸形及远节指骨缺如和/或发育不全的新型甲发育异常综合征。
A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges.
作者信息
Cooks R G, Hertz M, Katznelson M B, Goodman R M
出版信息
Clin Genet. 1985 Jan;27(1):85-91. doi: 10.1111/j.1399-0004.1985.tb00189.x.
Abstract
A family in which two generations have a rare and previously undescribed form of nail dysplasia with bone abnormalities is reported. This disorder is characterized by onychodystrophy, anonychia, brachydactyly of the fifth digit of the hands, and digitalization of the thumbs, with absence and/or hypoplasia of the distal phalanges of the hands and feet. The probable mode of transmission is autosomal dominant.
摘要
报道了一个家族，其中两代人患有罕见的、以前未描述过的伴有骨骼异常的指甲发育异常。这种疾病的特征是甲营养不良、无甲、手部第五指短指畸形以及拇指多指畸形，同时伴有手足远端指骨缺如和/或发育不全。可能的遗传方式为常染色体显性遗传。
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