Penchaszadeh V B, de Negrotti T C
J Med Genet. 1976 Aug;13(4):281-4. doi: 10.1136/jmg.13.4.281.
An infant is reported with a complete form of the ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, inherited from his mother, who has a partial expression of the condition, without clefting. This observation stresses the phenotypic variability of the EEC syndrome, which in most cases is inherited as an autosomal dominant with reduced penetrance.
据报道,一名婴儿患有完全型缺指(趾)-外胚层发育不良-腭裂(EEC)综合征,该综合征遗传自他的母亲,其母亲病情呈部分表现型,无腭裂症状。这一观察结果强调了EEC综合征的表型变异性,在大多数情况下,该综合征以常染色体显性遗传,外显率降低。