Parving A
Scand Audiol. 1978;7(2):101-3. doi: 10.3109/01050397809043138.
A family with Goldenhar's syndrome is presented. The pattern of inheritance is autosomal dominant with incomplete penetrance. The mutant gene in question has variable phenotypic expressivity. Evidence of progressive hearing loss is reported. Congenital facial palsy is suggested to be a part of the syndrome.
本文报道了一个患有Goldenhar综合征的家庭。其遗传模式为常染色体显性遗传，外显不全。所讨论的突变基因具有可变的表型表达。有进行性听力丧失的证据。先天性面瘫被认为是该综合征的一部分。
