Inter J Stomatol ›› 2018, Vol. 45 ›› Issue (1): 64-67.doi: 10.7518/gjkq.2018.01.013

• Original Articles • Previous Articles     Next Articles

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).

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

CLC Number: 

  • R782

TrendMD: 
[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.
[1] Liu Xiaolin,Ren Qun,Gao Xiaozhe,Bai Jiuping,Wang Yu,Li Xiangjun.. Clinical data analysis of 458 cases of supernumerary teeth in the upper incisor area [J]. Int J Stomatol, 2023, 50(1): 61-65.
[2] An Ning,Li Jiao,Mei Zhidan. Research progress on the osteoprotegerin/receptor activator of nuclear factor-κB/receptor activator of nuclear factor-κB ligand signaling pathway of tooth eruption [J]. Int J Stomatol, 2022, 49(1): 116-120.
[3] Deng Shiyong,Gong Ping,Tan Zhen. Effects of brain and muscle aryl hydrocarbon receptor nuclear translocator-like protein 1 gene on the regulation of oral and systemic bone metabolism [J]. Int J Stomatol, 2021, 48(2): 198-204.
[4] Shi Yu. The definition of skeletal stem cell in bone development [J]. Int J Stomatol, 2020, 47(3): 249-256.
[5] Wu Yongzhi,Yao Ke,Chen Siyu,Huang Nengwen,Wang Liao. Supernumerary teeth and its theranostics [J]. Int J Stomatol, 2020, 47(3): 311-317.
[6] Mingmei Meng,Weihua Guo,Xuedong Zhou,Jing Zou. Researches on interleukin-1α signalling pathway in tooth eruption [J]. Int J Stomatol, 2019, 46(3): 253-257.
[7] Wenjun Zhao,Yuanyuan Liu,Xiaoqi Hao,Kaili Wang,Jiayin Ren,Wenhao Guo,Guangning Zheng. Radiographical analysis of 46 patients’ supernumerary teeth in the third molar region [J]. Inter J Stomatol, 2019, 46(1): 20-25.
[8] Fang Hui, Yang Jie. Clinical characteristics and the diagnosis and treatment of non-syndromic supernumerary teeth [J]. Inter J Stomatol, 2018, 45(4): 449-454.
[9] Liu Xiaohua, Wang Enbo. Application progress on cone beam computed tomography imaging localization in extraction of embedded supernumerary teeth in children [J]. Inter J Stomatol, 2018, 45(3): 295-300.
[10] Peng Jiamei. Two cases of supernumerary teeth located in the mandibular incisor region [J]. Inter J Stomatol, 2016, 43(1): 34-.
[11] Hu Yidie, Zhou Li, Wang Yanmin. Relationship between extraction treatment and eruption of mandibular third molar [J]. Inter J Stomatol, 2015, 42(3): 367-370.
[12] Fan Zhihua, Sun Zhipeng, Dong Qing, Sun Lisha. Coordinated development of osteoblasts by the hedgehog and wingless-type mouse mammary tumor virus integration site family signaling pathways [J]. Inter J Stomatol, 2015, 42(2): 206-209.
[13] Wen Quan, Zhao Yuming. Research progress on primary failure of tooth eruption [J]. Inter J Stomatol, 2014, 41(6): 735-737.
[14] Zhou Ni, Zhang Canhua, Li Yanhong, Liu Juan.. Multiple supernumerary mandibular premolars [J]. Inter J Stomatol, 2014, 41(1): 20-22.
[15] Liu Qihong1, Hua Chengge2, Tan Lijun2. Teenager with six newly formed impacted supernumerary teeth: A case report [J]. Inter J Stomatol, 2013, 40(5): 598-599.
Viewed
Full text


Abstract

Cited

  Shared   
  Discussed   
[1] . [J]. Foreign Med Sci: Stomatol, 1999, 26(06): .
[2] . [J]. Foreign Med Sci: Stomatol, 1999, 26(05): .
[3] . [J]. Foreign Med Sci: Stomatol, 1999, 26(05): .
[4] . [J]. Foreign Med Sci: Stomatol, 1999, 26(05): .
[5] . [J]. Foreign Med Sci: Stomatol, 1999, 26(05): .
[6] . [J]. Foreign Med Sci: Stomatol, 1999, 26(04): .
[7] . [J]. Foreign Med Sci: Stomatol, 2005, 32(06): 458 -460 .
[8] . [J]. Foreign Med Sci: Stomatol, 2005, 32(06): 452 -454 .
[9] . [J]. Inter J Stomatol, 2008, 35(S1): .
[10] . [J]. Inter J Stomatol, 2008, 35(S1): .