Fried K
J Med Genet. 1977 Apr;14(2):137-9. doi: 10.1136/jmg.14.2.137.
First cousins, a male and a female, with a new type of hidrotic ectodermal dysplasia are described. They were each the result of first cousin marriage from the Egyptian Karaite community. They both had partial adontia, conical peg-shaped teeth, fine hair that did not grow long, normal sweating, eversion of lips, and pronounced facial similarity. The male had cleft lip on the right side while the female had a branchial cyst on the left side of the neck. The parents of both the cases were completely normal. The patients had distinct clinical similarity to the condition described by Witkop (1965) as 'Autosomal dominant dysplasia of nails and hypodontia' but the nails were less affected and the mode of inheritance was completely different.
本文描述了一对患新型汗孔性外胚层发育不良的堂兄妹（一男一女）。他们均出自埃及卡拉派社区的近亲通婚家庭。两人都有部分牙缺失、圆锥形钉状牙、毛发细软且不长、出汗正常、嘴唇外翻以及面部特征极为相似。男性右侧唇裂，女性左侧颈部有鳃裂囊肿。两例患者的父母均完全正常。这些患者的临床表现与Witkop（1965年）所描述的“常染色体显性遗传性指甲发育不良和缺牙症”明显相似，但指甲受影响程度较轻，且遗传方式完全不同。
