Gingival fibromatosis with distinctive facies presents a rare clinical picture. It is characterized by gingival fibromatosis in conjunction with some craniofacial dysmorphic features such as relative macrocephaly, bushy eyebrows, synophrys, hypertelorism, downslanting palpebral fissures, flattened nasal bridge, hypoplastic nares, cupid-bow mouth and a high palate. Autosomal recessive inheritance has been suggested. However, to date, no causative gene has been reported. Herein, we report a case presenting with the typical findings of this rare genetic syndrome. A homozygous c.1855C>T (p.Gln619Ter) mutation in the PTPN14 gene was identified.

中文翻译：

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PTPN14基因突变和牙龈纤维瘤病与独特相的关联：在整个外显子组测序中的新发现。

具有独特相的牙龈纤维瘤病临床表现罕见。它的特征是牙龈纤维瘤病并伴有一些颅面畸形，例如相对的大头畸形，浓密的眉毛，滑膜突触，过度体视，下斜的睑裂，鼻梁变平，鼻孔发育不良，丘比特和高late。有人提出常染色体隐性遗传。然而，迄今为止，尚未报道致病基因。在此，我们报告了一个病例，该病例呈现了这种罕见遗传综合征的典型发现。在PTPN14基因中鉴定出纯合的c.1855C> T（p.Gln619Ter）突变。