A 13-year-old caucasian boy with cleidocranial dysplasia: a case report

BMC Research Notes

Ioulia Ioannidou¹  Olga-Elpis Kolokitha¹ 

[1] Department of Orthodontics, School of Dentistry, Aristotle University of Thessaloniki, Thessaloniki, GR - 54124, Greece

关键词: Supernumerary teeth;    Delayed eruption;    Cleidocranial dysplasia;   

Others  :  1145049
DOI  :  10.1186/1756-0500-6-6

 received in 2012-05-11, accepted in 2012-12-18,  发布年份 2013

【 摘 要 】

Background

Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder. The disorder is caused by heterozygosity of mutations in human RUNX2, which is present on the short arm of chromosome 6p21. The incidence of CCD is one per million births. CCD appears spontaneously with no apparent genetic cause in approximately 40% of affected patients, and one in three patients has unaffected parents. The most prevalent features associated with CCD are aplastic or hypoplastic clavicles, supernumerary teeth, failed eruption of permanent teeth, and a hypoplastic maxilla.

Case presentation

A 13-year-old Caucasian boy presented with a chief complaint of delayed eruption of the permanent anterior teeth. The patient was subsequently diagnosed with CCD based on the clinical examination, panoramic X-ray, anterior-posterior and lateral cephalogram, and chest radiograph findings. The details of this case are herein reported because of the extremely low incidence of this disorder.

Conclusions

CCD is of clinical importance in dentistry and medicine because it affects the bones and teeth and is characterized by many changes in skeletal patterning and growth. Particularly in dentistry, CCD is of great clinical significance because is associated with delayed ossification of the skull sutures, delayed exfoliation of the primary teeth, lack of permanent teeth eruption, multiple supernumerary teeth, and morphological abnormalities of the maxilla and mandible. Patients with CCD seek treatment mainly for dental problems. Knowledge of the pathogenesis, clinical characteristics, and diagnostic tools of CCD will enable clinicians to render the appropriate treatment to improve function and aesthetics. Early diagnosis of CCD is crucial for timely initiation of an appropriate treatment approach.

【 授权许可】

   
2013 Kolokitha and Ioannidou; licensee BioMed Central Ltd.

【 图 表 】

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【 参考文献 】

• [1]Kolokitha OE, Papadopoulou AK: Cleidocranial dysplasia: Etiology, clinical characteristics, diagnostic information and treatment approach. Hell Orthod Rev 2008, 11:21-33.
• [2]Golan I, Baumert U, Hrala BP, Müssig D: Dentomaxillofacial variability of cleidocranial dysplasia: Clinicoradiological presentation of systemic review. J Dentomaxillofac Radiol 2003, 32:347-354.
• [3]Golan I, Baumert U, Hrala BP, Mubig D: Early craniofacial signs of cleidocranial dysplasia. Int J Pediatr Dent 2004, 14:49-53.
• [4]Mudlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Gole WG, Henn W, Knoll JHM, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR: Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 1997, 89:773-779.
• [5]Takeda S: Central control of bone remodeling. Biochem Biophys Res Commun 2005, 328:697-699.
• [6]Mundlos S: Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 1999, 36:177-182.
• [7]Zou SJ, D’ Souza RN, Ahlberg T, Bronckers AL: Tooh eruption and cementum formation in the Runx2/Cbfa1 heterozygous mouse. Arch Oral Biol 2003, 48:673-677.
• [8]Yoda S, Suda N, Kitahara Y, Komori T, Ohyama K: Delayed tooth eruption and suppressed osteoclast number in the eruption pathway of heterozygous Runx2/Cbfa1 knockout mice. Arch Oral Biol 2004, 49:435-442.
• [9]Xuan D, Li S, Zhang X, Lin L, Wang C, Zhang J: A novel RUNX2 mutation in cleidocranial dysplasia patients. Biochem Genet 2008, 46:702-707.
• [10]Tanaka JLO, Ono E, Filho EM, Castilho JCM, Moraes LC, Moraes MEL: Cleidocranial dysplasia: importance of radographic images in diagnosis of the condition. J Oral Sci 2006, 48:161-166.
• [11]Suba Z, Balaton G, Gyulai-Gaal S, Balaton P, Barabas J, Tarjan I: Cleidocranial dyspasia: diagnostic criteria and combined treatment. J Craniofac Surg 2005, 16:1122-1126.
• [12]Chelvan HT, Malathi N, Kailasam V, Ponnudurai A: Cleidocranial dysplasia: A Family report. J Indian Soc Pedod Prev Dent 2009, 27:249-252.
• [13]Jensen BL, Kreiborg S: Craniofacial growth in cleidocranial dysplaia- a roentgencephalometric study. J Craniofac Genet Dev Biol 1995, 15:35-43.
• [14]Kreiborg S, Jensen BL, Larsen P, Schleidt DT, Darvann T: Anomalies of craniofacial skeleton and teeth in cleidocranial dysplasia. J Craniofac Genet Dev Biol 1999, 19:75-79.
• [15]McNamara CM, O’Riordan BC, Blake M, Sandy JR: Cleidocranial dysplasia:Radiological appearences on dental panoramic radiography. J Dento Maxillo Facial Radiol 1999, 28:87-89.
• [16]Jensen BL, Kreiborg S: Development of the dentition in cleidocranial dysplasia. J Oral Pathol Med 1990, 19:89-93.
• [17]Garg RK, Agrawal P: Clinical spectrum of cleidocranial dysplasia: a case report. Cases J 2008, 1:377. BioMed Central Full Text
• [18]Mohan RP, Suma GN, Vashishth S, Goel S: Cleidocranial dysplasia: clinicoradiological illustration of a rare case. J Oral Sci 2010, 52:161-166.
• [19]Jensen BL, Kreibotg S: Craniofacial abnormalities in 52 school-age and adult patients with cleidocranial dysplasia. J Craniofac Genet Dev Biol 1993, 13:98-108.