一种无汗性外胚层发育不良综合征，伴有牙齿正常、特殊面容、色素沉着紊乱、精神运动和生长发育迟缓、双侧核性白内障及其他体征。
A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.
作者信息
Freire-Maia N, Fortes V A, Pereira L C, Opitz J M, Marcalle F A, Cavalli I J
出版信息
J Med Genet. 1975 Sep;12(3):308-10. doi: 10.1136/jmg.12.3.308.
Abstract
This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies, and other signs. This condition is considered a new form of ectodermal dysplasia.
摘要
本文描述了一名7岁女童，患有毛发发育异常、牙齿正常、甲弯曲、少汗症、精神运动和生长发育迟缓、皮肤干燥温暖伴有毛囊角化过度、色素紊乱（色素沉着和色素减退斑）、双侧核性白内障、皮纹异常及其他体征。这种病症被认为是外胚层发育不良的一种新形式。
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