国际口腔医学杂志

国际口腔医学杂志 ›› 2019, Vol. 46 ›› Issue (3): 339-342.doi: 10.7518/gjkq.2019009

• 综述 • 上一篇    下一篇

Pai综合征的研究进展

刘小旭1,2,马坚1,3,石冰4,黄永清1,3()   

  1. 1.宁夏医科大学口腔医学院 银川 750004
    2.长治医学院附属和平医院口腔科 长治 046000
    3.宁夏医科大学总医院口腔医院口腔颌面外科 银川 750004
    4.口腔疾病研究国家重点实验室 国家口腔疾病临床医学研究中心四川大学华西口腔医院唇腭裂外科 成都 610041
  • 收稿日期:2018-09-12 修回日期:2019-02-24 出版日期:2019-05-01 发布日期:2019-06-05
  • 通讯作者: 黄永清
  • 作者简介:刘小旭,住院医师,硕士,Email：liuxiaoxu108@126.com
  • 基金资助:
    宁夏高等教育科研项目(Ngy2016121);四川大学华西口腔医学院口腔疾病研究国家重点实验室开放课题(SKLOD2017OF08);国家自然科学基金(81560181);国家自然科学基金(81600853)

Research progress on Pai syndrome

Xiaoxu Liu1,2,Jian Ma1,3,Bing Shi4,Yongqing Huang1,3()   

  1. 1.College of Stomatology, Ningxia Medical University, Yinchuan 750004, China
    2.Dept. of Stomatology, Affiliated Heping Hospital of Changzhi Medical College, Changzhi 046000, China
    3.Dept. of Oral and Maxillofacial Surgery, Hospital of Stomatology, The General Hospital of Ningxia Medical University, Yinchuan 750004, China
    4.State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China
  • Received:2018-09-12 Revised:2019-02-24 Online:2019-05-01 Published:2019-06-05
  • Contact: Yongqing Huang
  • Supported by:
    This study was supported by Ningxia Higher Education Research project(Ngy2016121);The open subject of the State Key Laboratory of Oral Diseases in West China School of Stomatology, Sichuan University(SKLOD2017OF08);National Natural Science Foundation of China(81560181);National Natural Science Foundation of China(81600853)

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摘要：

Pai综合征是一种罕见的综合征型唇腭裂,1987年由Pai等首次报道。其主要特征是先天性颜面部皮肤息肉、中线唇裂、胼胝体脂肪瘤等。该疾病的表型复杂,临床诊断较为困难,目前还尚未形成统一的诊断标准。有关其病因及发病机制的报道较少,且仍未阐明。本文总结了所有已报道的66例Pai综合征患者,并就其临床表型、发病机制、诊断标准及治疗现状进行综述,以期为Pai综合征的诊疗及研究提供依据。

关键词: Pai综合征, 临床表型, 病因学研究, 诊断标准, 治疗

Abstract:

Pai syndrome is a rare syndromic cleft lip and/or palate, which was first reported by Pai and collaborators in 1987. It is characterized by congenital cutaneous polyps, midline cleft lip and pericallosal lipoma. It is difficult to identify due to complex phenotypes. A specific diagnostic standard has not been formed at present. The literatures about its etiology and pathogenesis were few and still unexplained. This report summarized 66 cases of Pai syndrome which had been reported, and analyzed its clinical phenotypes, pathogenesis, diagnostic criteria and treatment status in order to provide new vision for etiology, diagnosis and treatment.

Key words: Pai syndrome, clinical phenotype, etiological study, diagnostic criteria, treatment

中图分类号: 

  • R782

表 1

PS主要临床表现及百分比"

文献 颜面部中线处息肉 中线面裂 CNS畸形 眼部畸形
鼻部息肉 上腭前中缝牙槽突处息肉 MCL 上唇重系带 CCL 胼胝体发育不全
Castori等[9] 21/21（100%） - 17/21（81%） - 11/13（85%） - 4/6（66%）
本文 65/66（98%） 14/66（21%） 46/66（70%） 12/66（18%） 48/66（73%） 15/66（23%） 22/66（33%）
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