国际口腔医学杂志

国际口腔医学杂志 ›› 2018, Vol. 45 ›› Issue (1): 64-67.doi: 10.7518/gjkq.2018.01.013

• 综述 • 上一篇    下一篇

颅骨锁骨发育不全综合征及其牙颌面表征

钱浩亮, 李盛, 江宏兵   

  1. 南京医科大学口腔疾病研究江苏省重点实验室,南京医科大学附属口腔医院口腔颌面外科 南京 210029
  • 收稿日期:2017-03-21 修回日期:2017-10-15 发布日期:2018-01-15
  • 通讯作者: 江宏兵,教授,博士,Email：jhb@njmu.edu.cn
  • 作者简介:钱浩亮,硕士,Email：18360864990@163.com
  • 基金资助:
    江苏省高校优势学科建设工程项目（2014-37）

Cleidocranial dysplasia and dentofacial characterization

Qian Haoliang, Li Sheng, Jiang Hongbing   

  1. Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University Dept. of Oral and Maxillofacial Surgery, Affiliated Hospital of Stomatology, Nanjing Medical University, Nanjing 210029, China
  • Received:2017-03-21 Revised:2017-10-15 Published:2018-01-15
  • Supported by:
    This study was supported by Priority Academic Programfor the Development of Jiangsu Higher Education Institutions (2014-37).

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摘要： 颅骨锁骨发育不全综合征（CCD）是一种遗传性骨骼系统疾病,为常染色体显性遗传,临床罕见。CCD的主要致病原因为RUNX2基因杂合性突变。本文对CCD主要从以下几个方面进行综述：CCD临床表现、临床诊断及分子水平诊断,CCD的口腔表征及其相应发病机制,CCD的相关口腔表征的处理。

关键词: 颅骨锁骨发育不全综合征, 骨发育, 牙萌出, 多生牙, RUNX2基因

Abstract: Cleidocranial dysplasia (CCD) is a hereditary skeletal system disease characterized by autosomal dominant inheritance and rare clinical manifestations. The main cause of CCD was RUNX2 heterozygous mutation gene. In this paper, CCD were reviewed from the following aspects: 1) clinical manifestation, clinical diagnosis and molecular diagnosis of CCD; 2) oral manifestations and corresponding pathogenesis of CCD; 3) treatment of oral representation of CCD.

Key words: cleidocranial dysplasia, bone development, tooth eruption, supernumerary teeth, RUNX2 gene

中图分类号: 

  • R782
[1]Lee C, Jung HS, Baek JA, et al. Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation[J]. Maxillofac Plast Reconstr Surg, 2015, 37(1):41.
[2]Mundlos S, Otto F, Mundlos C, et al. Mutations in-volving the transcription factor CBFA1 cause cleido-cranial dysplasia[J]. Cell, 1997, 89(5):773- 779.
[3]Jaruga A, Hordyjewska E, Kandzierski G, et al. Cleido-cranial dysplasia and RUNX2-clinical phenotype-genotype correlation[J]. Clin Genet, 2016, 90(5):393- 402.
[4]Chen W, Ma J, Zhu G, et al. Cbfβ deletion in mice recapitulates cleidocranial dysplasia and reveals mu-ltiple functions of Cbfβ required for skeletal deve-lopment[J]. Proc Natl Acad Sci U S A, 2014, 111 (23):8482-8487.
[5]Ryoo HM, Kang HY, Lee SK, et al. RUNX2 muta-tions in cleidocranial dysplasia patients[J]. Oral Dis, 2010, 16(1):55-60.
[6]Bufalino A, Paranaíba LM, Gouvêa AF, et al. Cleido-cranial dysplasia: oral features and genetic analysis of 11 patients[J]. Oral Dis, 2012, 18(2):184-190.
[7]Anthonappa RP, King NM, Mahmoud Rabie AB. RUNX2 gene status in a cleidocranial dysplasia patient without supernumerary teeth[J]. J Investig Clin Dent, 2013, 4(2):124-127.
[8]Singhal P, Singhal A, Jayam C, et al. Cleidocranial dysplasia syndrome (CCD) with an unusual finding in a young patient[J]. BMJ Case Rep, 2015, 2015: bcr2015210514.
[9]Paul SA, Simon SS, Karthik AK, et al. A review of clinical and radiological features of cleidocranial dysplasia with a report of two cases and a dental treatment protocol[J]. J Pharm Bioallied Sci, 2015, 7(Suppl 2):S428-S432.
[10]Madeira MF, Caetano IM, Dias-Ribeiro E, et al. Orthognathic surgery in patients with cleidocranial dysplasia[J]. J Craniofac Surg, 2015, 26(3):792-795.
[11]Martins RB, de Souza RS, Giovani EM. Cleido-cranial dysplasia: report of six clinical cases[J]. Spec Care Dentist, 2014, 34(3):144-150.
[12]Schnutenhaus S, Luthardt RG, Rudolph H, et al. His-tological examination and clinical evaluation of the jawbone of an adult patient with cleidocranial dys-plasia: a case report[J]. Int J Clin Exp Pathol, 2015, 8(7):8521-8531.
[13]Yamachika E, Tsujigiwa H, Ishiwari Y, et al. Identi-fication of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip[J]. J Oral Pathol Med, 2001, 30(6): 381-383.
[14]Romeo U, Galluccio G, Palaia G, et al. Cleidocranial dysplasia: maxillary alterations on the transverse plane. Presence of crown-radicular anomalies and multidisciplinary approach of a clinical case[J]. Oral Health Dent Manag, 2014, 13(2):529-535.
[15]Dorotheou D, Gkantidis N, Karamolegkou M, et al. Tooth eruption: altered gene expression in the dental follicle of patients with cleidocranial dysplasia[J]. Orthod Craniofac Res, 2013, 16(1):20-27.
[16]Lu H, Zeng B, Yu D, et al. Complex dental ano-malies in a belatedly diagnosed cleidocranial dyspla-sia patient[J]. Imaging Sci Dent, 2015, 45(3):187- 192.
[17]Franceschi R, Maines E, Fedrizzi M, et al. Familial cleidocranial dysplasia misdiagnosed as rickets over three generations[J]. Pediatr Int, 2015, 57(5):1003- 1006.
[18]Hermann NV, Hove HD, Jørgensen C, et al. Prenatal 3D ultrasound diagnostics in cleidocranial dyspla-sia[J]. Fetal Diagn Ther, 2009, 25(1):36-39.
[19]Zhou G, Chen Y, Zhou L, et al. CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia[J]. Hum Mol Genet, 1999, 8(12):2311-2316.
[20]Jaruga A, Hordyjewska E, Kandzierski G, et al. Clei-docranial dysplasia and RUNX2-clinical phenotype-genotype correlation[J]. Clin Genet, 2016, 90(5): 393-402.
[21]Mastushita M, Kitoh H, Subasioglu A, et al. A gluta-mine repeat variant of the RUNX2 gene causes clei-docranial dysplasia[J]. Mol Syndromol, 2015, 6(1): 50-53.
[22]Li B, Zhang Y, Wang Q, et al. Periodontal ligament stem cells modulate root resorption of human pri-mary teeth via Runx2 regulating RANKL/OPG sys-tem[J]. Stem Cells Dev, 2014, 23(20):2524-2534.
[23]Zhu W, Liang M. Periodontal ligament stem cells: current status, concerns, and future prospects[J]. Stem Cells Int, 2015, 2015:972313.
[24]Ge J, Guo S, Fu Y, et al. Dental follicle cells parti-cipate in tooth eruption via the RUNX2-MiR-31-SATB2 loop[J]. J Dent Res, 2015, 94(7):936-944.
[25]Xu H, Snider TN, Wimer HF, et al. Multiple es-sential MT1-MMP functions in tooth root forma-tion, dentino-genesis, and tooth eruption[J]. Matrix Biol, 2016, (52/53/54):266-283.
[26]Gupta NS, Gogri AA, Kajale MM, et al. Cone-beam computed tomography: an inevitable investigation in cleidocranial dysplasia[J]. Contemp Clin Dent, 2015, 6(2):257-261.
[27]Wang J, Huang X, Lai C, et al. Clinical spectrum of cleidocranial dysplasia in a family with twins[J]. Pediatr Int, 2013, 55(3):392-395.
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