Pinheiro M, Freire-Maia D V, Miranda E, Silva-Filho O G, Freire-Maia N
Clin Genet. 1986 Apr;29(4):332-6. doi: 10.1111/j.1399-0004.1986.tb01263.x.
A mother and two children with trichodysplasia, hypodontia, onychodysplasia (not present in the mother), mild skin alterations, bilateral inward deflection of the 4th toes, and other findings are described. This is an ectodermal dysplasia of the tricho-odonto-onychial subgroup probably due to an autosomal dominant gene.
描述了一位母亲和两个患有毛发发育异常、缺牙、甲发育异常(母亲无此症状)、轻度皮肤改变、双侧第4趾向内弯曲及其他表现的儿童。这是一种毛发 - 牙齿 - 甲亚组的外胚层发育不良,可能由常染色体显性基因引起。