Int J Stomatol ›› 2019, Vol. 46 ›› Issue (3): 339-342.doi: 10.7518/gjkq.2019009

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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 E-mail:yongqinghuang_6510@126.com
  • 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)

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

CLC Number: 

  • R782

TrendMD: 

Tab 1

Main clinical phenotypes and proportion of PS"

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%)
[1] Preece JM, Kearns DB, Wickersham JK , et al. Nasal lipoma[J]. J Laryngol Otol, 1988,102(11):1044-1046.
doi: 10.1017/S0022215100107224
[2] Rudnik-Schöneborn S, Zerres K . A further patient with Pai syndrome with autosomal dominant inheritance[J]. J Med Genet, 1994,31(6):497-498.
doi: 10.1136/jmg.31.6.497
[3] Masuno M, Imaizumi K, Fukushima Y , et al. Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2)[J]. J Med Genet, 1997,34(11):952-954.
doi: 10.1136/jmg.34.11.952 pmid: 1051130
[4] Mishima K, Mori Y, Minami K , et al. A case of Pai syndrome[J]. Plast Reconstr Surg, 1999,103(1):166-170.
doi: 10.1097/00006534-199901000-00026
[5] Lederer D, Wilson B, Lefesvre P , et al. Atypical findings in three patients with Pai syndrome and literature review[J]. Am J Med Genet A, 2012,158A(11):2899-2904.
doi: 10.1002/ajmg.a.35592
[6] Tormey P, Bilic Cace I, Boyle MA . Ocular dermoid in Pai syndrome: a review[J]. Eur J Med Genet, 2017,60(4):217-219.
doi: 10.1016/j.ejmg.2017.01.008
[7] Pai GS, Levkoff AH, Leithiser RE Jr . Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps[J]. Am J Med Genet, 1987,26(4):921-924.
doi: 10.1002/(ISSN)1096-8628
[8] Lees MM, Connelly F, Kangesu L , et al. Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome[J]. Clin Dysmorphol, 2006,15(3):155-159.
doi: 10.1097/01.mcd.0000204987.61990.f0
[9] Castori M, Rinaldi R, Bianchi A , et al. Pai syndrome: first patient with agenesis of the corpus callosum and literature review[J]. Birth Defects Res A Clin Mol Teratol, 2007,79(10):673-679.
doi: 10.1002/(ISSN)1542-0760
[10] Guion-Almeida ML, Richieri-Costa A, Saavedra D , et al. Frontonasal dysplasia: analysis of 21 cases and literature review[J]. Int J Oral Maxillofac Surg, 1996,25(2):91-97.
doi: 10.1016/S0901-5027(96)80048-8
[11] Guion-Almeida ML, Mellado C, Beltrán C , et al. Pai syndrome: report of seven South American patients[J]. Am J Med Genet A, 2007,143A(24):3273-3279.
doi: 10.1002/(ISSN)1552-4833
[12] Ocak Z, Yazicioglu HF, Aygun M , et al. Prenatal detection of Pai syndrome without cleft lip and palate: a case report[J]. Genet Couns, 2013,24(1):1-5.
[13] Dobrocky T, Ebner L, Liniger B , et al. Pre- and postnatal imaging of Pai syndrome with spontaneous intrauterine closure of a frontal cephalocele[J]. Pediatr Radiol, 2015,45(6):936-940.
doi: 10.1007/s00247-014-3205-8
[14] Imai Y, Kure S, Nara C , et al. Mental development and surgical prognosis of Pai syndrome: a case report and review of the literature[J]. Cleft Palate Craniofac J, 2019,56(2):273-279.
doi: 10.1177/1055665618771419
[15] Melloni-Magnelli LF, de La Garza-Giacoman R, Martinez-Leija H , et al. First clinical case of Pai Syndrome in México[J]. Cir Plást Iberolatinoam, 2015,41(2):183-189.
doi: 10.4321/S0376-78922015000200010
[16] Ponniah RD . Midline cleft lip with associated abnormalities[J]. J Laryngol Otol, 1977,91(2):177-181.
doi: 10.1017/S0022215100083535
[17] Azurdia J, Burke L, Laub D Jr . Pai syndrome: median cleft lip, corpus callosum lipoma, fibroepithelial skin tag[J]. Eplasty, 2014, 14: ic7.
[18] Savasta S, Chiapedi S, Perrini S , et al. Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum[J]. Childs Nerv Syst, 2008,24(6):773-776.
doi: 10.1007/s00381-008-0613-9
[19] Chousta A, Ville D, James I , et al. Pericallosal lipoma associated with Pai syndrome: prenatal imaging findings[J]. Ultrasound Obstet Gynecol, 2008,32(5):708-710.
doi: 10.1002/uog.v32:5
[20] Blouet M, Belloy F, Jeanne-Pasquier C , et al. Pai syndrome: challenging prenatal diagnosis and management[J]. Pediatr Radiol, 2014,44(9):1184-1187.
doi: 10.1007/s00247-014-2966-4
[21] Vaccarella F, Pini Prato A, Fasciolo A , et al. Phenotypic variability of Pai syndrome: report of two patients and review of the literature[J]. Int J Oral Maxillofac Surg, 2008,37(11):1059-1064.
doi: 10.1016/j.ijom.2008.06.007
[22] Li E, Galvin JA . Ophthalmic abnormalities of Pai syndrome: a case report and review of literature[J]. Ophthalmic Genet, 2018,39(2):282-285.
doi: 10.1080/13816810.2017.1381979
[23] Abdelmaaboud M, Nimeri N . Pai syndrome: first reported case in Qatar and review of literature of previously published cases[J]. BMJ Case Rep, 2012, 2012: bcr0220125940.
[24] Huckstadt V, Heis Mendoza ME, Moresco A , et al. Pai syndrome: two new cases with unusual manifestations[J]. Arch Argent Pediatr, 2018,116(2):e336-e340.
[25] Szeto C, Tewfik TL, Jewer D , et al. Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): a case report and literature review[J]. Int J Pediatr Otorhinolaryngol, 2005,69(9):1247-1252.
doi: 10.1016/j.ijporl.2005.01.038
[26] Coban YK, Boran C, Omeroglu SA , et al. Pai syndrome: an adult patient with bifid nose and frontal hairline marker[J]. Cleft Palate Craniofac J, 2003,40(3):325-328.
doi: 10.1597/1545-1569_2003_040_0325_psaapw_2.0.co_2
[27] Patil SB, Harsh S . Lipoma of Columella with septal extension in Pai syndrome: report of a rare case[J]. BMC Ear Nose Throat Disord, 2017,17:2.
doi: 10.1186/s12901-017-0035-y
[28] Al-Mazrou KA, Al-Rekabi A, Alorainy IA , et al. Pai syndrome: a report of a case and review of the literature[J]. Int J Pediatr Otorhinolaryngol, 2001,61(2):149-153.
doi: 10.1016/S0165-5876(01)00555-9
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