Cecatto-De-Lima L, Pinheiro M, Freire-Maia N
Departmento de Genética, Universidade Federal do Paraná, Curitiba, Brazil.
J Med Genet. 1988 Jun;25(6):430-2. doi: 10.1136/jmg.25.6.430.
A brother and sister, the offspring of first cousins, are described with retinitis pigmentosa, trichodysplasia (hypotrichosis and structural changes), dental anomalies, and onychodysplasia. This is a pure ectodermal dysplasia of the tricho-odonto-onychial subgroup, probably due to an autosomal recessive gene.
一对表亲的后代,兄妹二人,患有色素性视网膜炎、毛发发育异常(毛发稀少和结构改变)、牙齿异常和甲发育异常。这是一种毛发 - 牙齿 - 甲亚组的纯外胚层发育不良,可能由常染色体隐性基因所致。