Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. It is caused by biallelic mutations of FRAS1 , FREM2 , and GRIP1 genes, encoding components of a protein complex that mediates embryonic epithelial–mesenchymal interactions. Anecdotal reports have described abnormal orodental findings in FS, but no study has as yet addressed the orodental findings of FS systematically. We reviewed dental radiographs of 10 unrelated patients with FS of different genetic etiologies. Dental anomalies were present in all patients with FS and included hypodontia, dental crowding, medial diastema, and retained teeth. A very consistent pattern of shortened dental roots of most permanent teeth as well as altered length/width ratio with shortened dental crowns of upper incisors was also identified. These findings suggest that the FRAS1–FREM complex mediates critical mesenchymal–epithelial interactions during dental crown and root development. The orodental findings of FS reported herein represent a previously underestimated manifestation of the disorder with significant impact on orodental health for affected individuals. Integration of dentists and orthodontists into the multidisciplinary team for management of FS is therefore recommended.

中文翻译：

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弗雷泽综合症的特征是牙本质欠缺，牙根短的牙型。

弗雷泽综合症（FS）是一种罕见的常染色体隐性遗传性多发性先天畸形综合症，其特征是隐性眼睑，皮肤综合征，肾发育不全，生殖器模棱两可和喉气管异常。它是由FRAS1，FREM2和GRIP1的双等位基因突变引起的基因，编码介导胚胎上皮-间质相互作用的蛋白质复合物的成分。传闻报道描述了FS中口腔异常的发现，但尚无研究系统地解决FS中口腔异常的问题。我们回顾了10例具有不同遗传病因的FS无关患者的牙科X光片。所有FS患者均存在牙齿异常，包括牙髓不足，牙齿拥挤，内侧扩张和牙齿固位。还确定了大多数恒牙的牙根缩短的非常一致的模式，以及上切牙的牙冠缩短的长度/宽度比的变化。这些发现表明FRAS1-FREM复合物在牙冠和牙根发育过程中介导了关键的间质-上皮相互作用。本文报道的FS口腔口腔疾病发现代表该疾病先前被低估的表现，对患病个体的口腔牙齿健康具有重大影响。因此，建议将牙医和正畸医生纳入多学科团队来管理FS。