关键词: 口-面-指综合征Ⅰ型, 唇腭裂, 先天性心脑发育不全, X连锁显性遗传, Oral-facial-digital syndrome type-Ⅰ, Cleft lip and palate, Congenital heart and brain hypoplasia, X- linked dominant inheritance

Abstract: Oral-facial-digital syndrome type-Ⅰ(OFD type-Ⅰ) is a rare congenital syndrome characterized by eccyliosis and malformations of the oral cavity, face and bones. A case of OFD I type with cleft lip and palate, the teeth deformities, short syndactyly, congenital heart and brain hypoplasia was reported, combined with review of the literature to summarize its etiology and the treatment so as to provide a reference for clinical diagnosis and treatment.