Akdeniz University School of Medicine Department of Pediatrics, Antalya, Turkey.
Indian Pediatr. 2007 Nov;44(11):854-6.
The oral-facial-digital syndrome type 1 is characterized by following abnormalities: pseudocleft of the upper lip, tongue lobulation, hamartomata on the tongue, alveolar frenulae, and clefting of the soft palate. We report a 9-month-old girl who was referred to our clinic due to facial dysmorphology in addition to cleft palate and multiple masses on the tongue which resulted in feeding problems. Surgical intervention was done. Molecular analysis revealed absence of OFD gene.
1 型口腔颌面指（趾）甲综合征的特征为：上唇人中裂、舌裂、舌部错构瘤、牙槽嵴裂和软腭裂。我们报告了一例 9 月龄女婴，因面部畸形、腭裂和舌部多个肿块就诊，这些肿块导致喂养问题。进行了手术干预。分子分析显示 OFD 基因缺失。
