口-面-指综合征Ⅰ型伴先天性心脑发育不全1例报道

Oral-facial-digital syndrome type-Ⅰassociated with congenital heart and brain hypoplasia:a case report

口面指综合征(Oral-facial-digital syndrome,OFD综合征)是一种少见的先天性畸形疾病,以口、面及指(趾)等的发育障碍为其三大特征。本例报告了OFDⅠ型伴唇腭裂、牙齿畸形、短指畸形、先天性心脑发育不全1例,结合文献回顾,对其相关病因及治疗进行总结,为临床诊治提供参考。

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, congeni- tal 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.