Department of Pediatrics.
Department of Pedodontics, Faculty of Dentistry.
Clin Dysmorphol. 2021 Apr 1;30(2):93-99. doi: 10.1097/MCD.0000000000000363.
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.
具有特殊面容的牙龈纤维瘤病呈现出一种罕见的临床特征。其特征是牙龈纤维瘤病合并一些颅面发育异常特征，如相对大头畸形、浓眉、一字眉、眼球突出、眼睑裂倾斜、扁平鼻梁、鼻孔发育不良、拱形口和高腭。常染色体隐性遗传已被提出。然而，迄今为止，尚未报道任何致病基因。本文报告了一例具有这种罕见遗传综合征典型表现的病例。在 PTPN14 基因中发现了纯合 c.1855C>T(p.Gln619Ter)突变。
