Freire-Maia N, Felizali J, de Figueiredo A C, Opitz J M, Parreira M, Maia N A
Clin Genet. 1976 Nov;10(5):303-6. doi: 10.1111/j.1399-0004.1976.tb00052.x.
Hypertrichosis lanuginosa (without gingival hyperplasia) is described in a mother and son; the latter also had photophobia, infantile genitalia, growth retardation, hypotension, low IQ and dental abnormalities (hyperdontia, permanence of deciduous and delayed eruption of permanent teeth). Both have normal dermatoglyphics. Some clinical findings are discussed. The presence of this syndrome in a mother and son supports an autosomal mode of inheritance (with variable expressivity). Hypertrichosis lanuginosa is a pure monomultidysplasia and may be classified with the tricho-odontic sub-group of the ectodermal dysplasias.
在一位母亲和她儿子身上发现了先天性胎毛过多症(无牙龈增生);后者还伴有畏光、幼稚型生殖器、生长发育迟缓、低血压、低智商以及牙齿异常(多生牙、乳牙滞留和恒牙萌出延迟)。两人的皮纹均正常。文中讨论了一些临床发现。母亲和儿子都患有该综合征,这支持了常染色体遗传模式(表现度可变)。先天性胎毛过多症是一种单纯的多发性发育异常,可归类于外胚层发育不良的毛发 - 牙齿亚组。