口-面-指综合征Ⅰ型5例临床分析

目的: 分析口-面-指综合征Ⅰ型的临床特征,探讨其临床诊断与治疗方法。方法: 回顾2015年11月—2019年9月诊治的5例口-面-指综合征Ⅰ型患者的临床资料,总结临床诊疗经验。结果: 5例患者均为女性,存在口腔、面部畸形,3例存在手指畸形,2例母亲患者均有无诱因流产史,且伴多囊肾,3例幼儿患者未见多囊肾。舌龈系带矫正术、分叶舌及腭裂整复术后形态功能恢复良好,舌尖结节病理证实为错构瘤。结论: 口-面-指综合征Ⅰ型表型多样,可合并其他系统性缺陷,需与其他分型相鉴别。建议以手术整复畸形和改善功能障碍为主的多学科综合序列治疗,注意其他系统性缺陷的检查,以指导患者的医疗管理和健康监测。

Retrospective analysis of 5 cases with oral-facial-digital syndrome type I

PURPOSE: To analyze the clinical features in 5 individuals with oral-facial-digital syndrome type I, and investigate the diagnosis and therapy of oral-facial-digital syndrome typeⅠ. METHODS: A retrospective study was conducted in 5 patients with oral-facial-digital syndrome typeⅠ from November 2015 to September 2019. The experience in diagnosis and treatment was summarized and analyzed. RESULTS: Five patients with oral-facial-digital syndrome type Ⅰwere all females and were examined clinically and radiographically, associated oral and facial malformations were observed in 5 patients, digital malformations were observed in 2 patients, polycystic kidney disease was observed in 2 mothers with abortion history. All the patients had satisfied functional and esthetic results. The pathology of tongue nodules was hamartoma. CONCLUSIONS: Oral-facial-digital syndrome typeⅠhad complex phenotype and always complicated with other systemic malformations. Multidisciplinary comprehensive sequence therapy was necessary, surgical treatment was used to correct the malformation and dysfunction. Other systemic malformations must be examined, which will guide health surveillance and medical management of these patients.