Tuffli G A, Laxova R
Am J Med Genet. 1983 Feb;14(2):381-4. doi: 10.1002/ajmg.1320140219.
We describe a 15-year-old boy with an ectodermal dysplasia syndrome (EDS) associated with unilateral adrenal cyst. The EDS combination of aplasia cutis verticis, hypohidrosis, nipple/breast hypoplasia, onychodysplasia, and delayed dental eruption with minor tooth anomalies has not been previously reported as an autosomal dominant trait. The association with adrenal cyst may alert other units to review their experience to determine if such combination is more than a coincidence.
我们描述了一名患有外胚层发育异常综合征（EDS）并伴有单侧肾上腺囊肿的15岁男孩。此前尚未有报道称，头皮皮肤发育不全、少汗症、乳头/乳房发育不全、甲发育异常以及牙齿萌出延迟伴轻微牙齿异常的EDS组合为常染色体显性性状。肾上腺囊肿的关联可能会提醒其他科室回顾其经验，以确定这种组合是否不仅仅是一种巧合。
