Pinheiro M, Gomes-de-Sá-Filho F P, Freire-Maia N
Department of Genetics, Federal University of Paraná, Curitiba, Brasil.
Am J Med Genet. 1990 Jun;36(2):161-6. doi: 10.1002/ajmg.1320360207.
We report on 2 sisters and one brother with severe dental anomalies, trichodysplasia, onychodysplasia, and slight skin alterations. Four other relatives have only mild dental anomalies. Differential diagnosis includes 3 other ectodermal dysplasias: hypodontia and nail dysgenesis, dermoodontodysplasia, and trichodermodysplasia with dental alterations. Cause is unknown.
我们报告了2名姐妹和1名兄弟,他们患有严重的牙齿异常、毛发发育异常、甲发育异常以及轻微的皮肤改变。另外4名亲属仅有轻度牙齿异常。鉴别诊断包括其他3种外胚层发育异常:少牙症和甲发育不全、皮肤牙发育异常以及伴有牙齿改变的毛发皮肤发育异常。病因不明。