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 基因突变与具有独特相的牙龈纤维瘤病的关联：全外显子组测序的新发现。

具有独特面貌的牙龈纤维瘤病呈现出罕见的临床表现。其特征是牙龈纤维瘤病并伴有一些颅面畸形特征，如相对大头畸形、浓密眉毛、一字眼、距距过远、睑裂下斜、鼻梁扁平、鼻孔发育不全、丘比特弓嘴和高腭。有人建议常染色体隐性遗传。然而，迄今为止，尚未报道致病基因。在此，我们报告一例具有这种罕见遗传综合征典型表现的病例。鉴定出 PTPN14 基因中的纯合 c.1855C>T (p.Gln619Ter) 突变。