Williams M A, Shprintzen R J, Goldberg R B
J Craniofac Genet Dev Biol. 1985;5(2):175-80.
The velo-cardio-facial syndrome is one of the most common syndromes of clefting. Previous reports have shown vertical pedigree transmission, but in all cases the gene was maternally transmitted. The genetics of this syndrome had been suspected as autosomal dominant, but X-linked dominant inheritance could not be ruled out. This report describes an instance of male-to-male transmission of the velo-cardio-facial syndrome. In addition, the clinical findings in 60 cases are reported to further delineate the phenotypic spectrum of the syndrome.
腭心面综合征是最常见的腭裂综合征之一。既往报道显示其呈垂直系谱传递，但所有病例中该基因均由母亲传递。该综合征的遗传方式曾被怀疑为常染色体显性遗传，但X连锁显性遗传也不能排除。本报告描述了一例腭心面综合征男性向男性传递的病例。此外，报告了60例患者的临床发现，以进一步明确该综合征的表型谱。
