References

Scheuthauer G Kombination rudimentärer Schlüsselbeine mit Anomalien des Schädels beim erwachsenen Menschen. Allegmein Wienesische Medizinische Zeitung. 1871; 16:293-295
Marie P, Sainton P Observation d'hydrocéphalie héréditaire (père et fils), par vice de dévelopement du crâne et du cerveau. Bulletins et memoires de la Sociéte medicale des hôpitaux de Paris. 1897; 14:706-712
Yochum TR, Rowe LJ Essentials of Skeletal Radiology, 2nd edn. Baltimore, MD, USA: Williams & Wilkins; 1996
Roberts T, Stephen L, Beighton P Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience. Oral Surg Oral Med Oral Pathol Oral Radiol. 2013; 115:46-55 https://doi.org/10.1016/j.oooo.2012.07.435
Gorlin RJ, Cohen MM, Hennekam RCM Syndromes of the Head and Neck, 3rd edn. New York, NY, USA: Oxford University Press; 1990
Mundlos S, Mulliken JB, Abramson DL Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. Hum Mol Genet. 1995; 4:71-75 https://doi.org/10.1093/hmg/4.1.71
Ramesar RS, Greenberg J, Martin R Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. J Med Genet. 1996; 33:511-514 https://doi.org/10.1136/jmg.33.6.511
Feldman GJ, Robin NH, Brueton LA A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. Am J Hum Genet. 1995; 56:938-943
Lee B, Thirunavukkarasu K, Zhou L Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet. 1997; 16:307-310 https://doi.org/10.1038/ng0797-307
Shevde NK, Bendixen AC, Maruyama M Enhanced activity of osteoblast differentiation factor (PEBP2alphaA2/CBFa1) in affected sutural osteoblasts from patients with nonsyndromic craniosynostosis. Cleft Palate Craniofac J. 2001; 38:606-614 https://doi.org/10.1597/1545-1569_2001_038_0606_eaoodf_2.0.co_2
Mundlos S Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet. 1999; 36:177-182
Cooper SC, Flaitz CM, Johnston DA A natural history of cleidocranial dysplasia. Am J Med Genet. 2001; 104:1-6 https://doi.org/10.1002/ajmg.10024
MedlinePlus. Cleidocranial dysplasia. 2017. https://medlineplus. gov/genetics/condition/cleidocranial-dysplasia/ (accessed January 2025)
Figueroa AA, Friede H Craniofacial growth in unoperated craniofacial malformations. Cleft Palate Craniofac J. 2000; 37:431-432 https://doi.org/10.1597/1545-1569(2000)037%3C0431:cgiucm%3E2.0.co;2
McNamara CM, O'Riordan BC, Blake M, Sandy JR Cleidocranial dysplasia: radiological appearances on dental panoramic radiography. Dentomaxillofac Radiol. 1999; 28:89-97 https://doi.org/10.1038/sj/dmfr/4600417
Dorotheou D, Gkantidis N, Karamolegkou M Tooth eruption: altered gene expression in the dental follicle of patients with cleidocranial dysplasia. Orthod Craniofac Res. 2013; 16:20-27 https://doi.org/10.1111/ocr.12000
Hitchin AD, Fairley JM Dental management in cleido-cranial dysostosis. Br J Oral Surg. 1974; 12:46-55 https://doi.org/10.1016/0007-117x(74)90060-2
Counts AL, Rohrer MD, Prasad H, Bolen P An assessment of root cementum in cleidocranial dysplasia. Angle Orthod. 2001; 71:293-298
Fukuta Y, Totsuka M, Fukuta Y Histological and analytical studies of a tooth in a patient with cleidocranial dysostosis. J Oral Sci. 2001; 43:85-89 https://doi.org/10.2334/josnusd.43.85
Mohan RP, Suma GN, Vashishth S, Goel S Cleidocranial dysplasia: clinico-radiological illustration of a rare case. J Oral Sci. 2010; 52:161-166 https://doi.org/10.2334/josnusd.52.161
Koch PE, Hammer WB Cleidocranial dysostosis: review of the literature and report of case. J Oral Surg. 1978; 36:39-42
Xuan D, Li S, Zhang X Mutations in the RUNX2 gene in Chinese patients with cleidocranial dysplasia. Ann Clin Lab Sci. 2008; 38:15-24
Singh S, Sharma S, Singh H, Wazir ND Cleidocranial dysplasia: a case report illustrating diagnostic clinical and radiological findings. J Clin Diagn Res. 2014; 8:ZD19-20 https://doi.org/10.7860/jcdr/2014/9085.4499
Farronato G, Maspero C, Farronato D, Gioventù S Orthodontic treatment in a patient with cleidocranial dysostosis. Angle Orthod. 2009; 79:178-185 https://doi.org/10.2319/111307-393.1
González López BS, Ortiz Solalinde C, Kubodera Ito T Cleido cranial dysplasia: report of a family. J Oral Sci. 2004; 46:259-266 https://doi.org/10.2334/josnusd.46.259
Daskalogiannakis J, Piedade L, Lindholm TC Cleidocranial dysplasia: 2 generations of management. J Can Dent Assoc. 2006; 72:337-342
Golan I, Baumert U, Hrala BP, Müssig D Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systematic review. Dentomaxillofac Radiol. 2003; 32:347-354 https://doi.org/10.1259/dmfr/63490079
Dalessandri D, Laffranchi L, Tonni I Advantages of cone beam computed tomography (CBCT) in the orthodontic treatment planning of cleidocranial dysplasia patients: a case report. Head Face Med. 2011; 7 https://doi.org/10.1186/1746-160x-7-6
Kreiborg S, Jensen BL, Björk A, Skieller V Abnormalities of the cranial base in cleidocranial dysostosis. Am J Orthod. 1981; 79:549-557 https://doi.org/10.1016/s0002-9416(81)90465-6
Kau CH, Richmond S, Palomo JM, Hans MG Three-dimensional cone beam computerized tomography in orthodontics. J Orthod. 2005; 32:282-293 https://doi.org/10.1179/146531205225021285
Ericson S, Kurol PJ Resorption of incisors after ectopic eruption of maxillary canines: a CT study. Angle Orthod. 2000; 70:415-423
Tsiklakis K, Syriopoulos K, Stamatakis HC Radiographic examination of the temporomandibular joint using cone beam computed tomography. Dentomaxillofac Radiol. 2004; 33:196-201 https://doi.org/10.1259/dmfr/27403192
Fardy MJ Cleidocranial dysostosis: some problems in the dental management of occlusion. Dent Update. 1984; 11:363-368
Kelly E, Nakamoto RY Cleidocranial dysostosis–a prosthodontic problem. J Prosthet Dent. 1974; 31:518-526 https://doi.org/10.1016/0022-3913(74)90173-5
Magnus WW, Sands NR Cleidocranial dysostosis. Report of a case. Am J Orthod. 1974; 65:638-643 https://doi.org/10.1016/0002-9416(74)90258-9
Weintraub GS, Yalisove IL Prosthodontic therapy for cleidocranial dysostosis: report of case. J Am Dent Assoc. 1978; 96:301-305 https://doi.org/10.14219/jada.archive.1978.0060
Winther JE, Khan MW Cleidocranial dysostosis: report of 4 cases. Dent Pract Dent Rec. 1972; 22:215-219
Pusey RF, Durie JF A case of cleidocranialdysostosis showing failure of eruption of teeth. Br Dent J. 1943; 75:11-13
Tripathi S, Singh RD, Singh SV, Chand P A case of cleidocranial dysostosis: dilemma for a prosthodontist. J Indian Prosthodont Soc. 2012; 12:252-255 https://doi.org/10.1007/s13191-012-0135-8
Pavel K, Seydlova M, Dostalova T Dental implants and improvement of oral health-related quality of life. Community Dent Oral Epidemiol. 2012; 40:65-70 https://doi.org/10.1111/j.1600-0528.2011.00668.x
Berg RW, Kurtz KS, Watanabe I, Lambrakos A Interim prosthetic phase of multidisciplinary management of cleidocranial dysplasia: ‘the Bronx Approach’. J Prosthodont. 2011; 20:S20-S25 https://doi.org/10.1111/j.1532-849x.2011.00786.x
Trimble LD, West RA, McNeill RW Cleidocranial dysplasia: comprehensive treatment of the dentofacial abnormalities. J Am Dent Assoc. 1982; 105:661-666 https://doi.org/10.14219/jada.archive.1982.0450
D'Alessandro G, Tagariello T, Piana G Craniofacial changes and treatment of the stomatognathic system in subjects with Cleidocranial dysplasia. Eur J Paediatr Dent. 2010; 11:39-43
Becktor KB, Becktor JP, Keller EE Growth analysis of a patient with ectodermal dysplasia treated with endosseous implants: a case report. Int J Oral Maxillofac Implants. 2001; 16:864-874
Pröbster L, Bachmann R, Weber H Custom-made resin-bonded attachments supporting a removable partial denture using the spark erosion technique: a case report. Quintessence Int. 1991; 22:349-354
Lombardas P, Toothaker RW Bone grafting and osseointegrated implants in the treatment of cleidocranial dysplasia. Compend Contin Educ Dent. 1997; 18:509-512
Park TK, Vargervik K, Oberoi S Orthodontic and surgical management of cleidocranial dysplasia. Korean J Orthod. 2013; 43:248-260 https://doi.org/10.4041/kjod.2013.43.5.248
Angle AD, Rebellato J Dental team management for a patient with cleidocranial dysostosis. Am J Orthod Dentofacial Orthop. 2005; 128:110-117 https://doi.org/10.1016/j.ajodo.2004.05.019
Petropoulos VC, Balshi TJ, Balshi SF, Wolfinger GJ Treatment of a patient with cleidocranial dysplasia using osseointegrated implants: a patient report. Int J Oral Maxillofac Implants. 2004; 19:282-287
Jensen BL, Kreiborg S Dental treatment strategies in cleidocranial dysplasia. Br Dent J. 1992; 172:243-247 https://doi.org/10.1038/sj.bdj.4807836
Becker A, Lustmann J, Shteyer A Cleidocranial dysplasia: Part 1–General principles of the orthodontic and surgical treatment modality. Am J Orthod Dentofacial Orthop. 1997; 111:28-33 https://doi.org/10.1016/s0889-5406(97)70298-1
Nordenram A Autotransplantation of teeth in cleidocranial dysostosis. Odontol Revy. 1971; 22:363-369
Halazonetis J, Halazonetis DJ Autotransplantation in cleidocranial dysplasia: case report with 5-year follow-up. J Oral Maxillofac Surg. 1995; 53:1472-1475 https://doi.org/10.1016/0278-2391(95)90681-9
Winther GR Dental conditions in Cleidocranial dysostosis. Am J Orthod Oral Surg. 1943; 29:61-89
Becker A The Orthodontic Treatment of Impacted Teeth.Chichester, Sussex: Martin Dunitz; 1998
Becker A, Shteyer A, Bimstein E, Lustmann J Cleidocranial dysplasia: Part 2–Treatment protocol for the orthodontic and surgical modality. Am J Orthod Dentofacial Orthop. 1997; 111:173-183 https://doi.org/10.1016/s0889-5406(97)70213-0
Balaton G, Tarján I, Balaton P Orthodontiai és szájsebészeti terápia cleidocranialis dysplasia esetében [Orthodontic and oral surgery therapy in cleidocranial dysplasia]. Fogorv Sz. 2007; 100:17-21
Hemalatha R, Balasubramaniam MR Cleidocranial dysplasia: a case report. J Indian Soc Pedod Prev Dent. 2008; 26:40-43 https://doi.org/10.4103/0970-4388.40322
Verstrynge A, Carels C, Verdonck A Dentomaxillaire enfaciale problemen bij cleidocraniale dysplasie [Dentomaxillary and -facial problems in cleidocranial dysplasia]. Ned Tijdschr Tandheelkd. 2006; 113:69-74
Olszewska A Dental treatment strategies in a 40-year-old patient with cleidocranial dysplasia. J Appl Genet. 2006; 47:199-201 https://doi.org/10.1007/bf03194623
Jensen BL, Kreiborg S Development of the dentition in cleidocranial dysplasia. J Oral Pathol Med. 1990; 19:89-93 https://doi.org/10.1111/j.1600-0714.1990.tb00803.x
Smylski PT, Woodside DG, Harnett BE Surgical and orthodontic treatment of cleidocranial dysostosis. Int J Oral Surg. 1974; 3:380-385 https://doi.org/10.1016/s0300-9785(74)80002-5
Hall RK, Hyland AL Combined surgical and orthodontic management of the oral abnormalities in children with cleidocranial dysplasia. Int J Oral Surg. 1978; 7:267-273 https://doi.org/10.1016/s0300-9785(78)80093-3
Richardson A, Swinson T Combined orthodontic and surgical approach to Cleidocranial dysostosis. Trans Eur Orthod Soc. 1987; 63
Behlfelt K Cleido-cranial dysplasia: diagnosis and treatment concept. Trans Eur Orthod Soc. 1987; 63
Suba Z, Balaton G, Gyulai-Gaál S Cleidocranial dysplasia: diagnostic criteria and combined treatment. J Craniofac Surg. 2005; 16:1122-1126 https://doi.org/10.1097/01.scs.0000179747.75918.58
Ishii K, Nielsen IL, Vargervik K Characteristics of jaw growth in cleidocranial dysplasia. Cleft Palate Craniofac J. 1998; 35:161-166
Kuroda S, Yanagita T, Kyung HM, Takano-Yamamoto T Titanium screw anchorage for traction of many impacted teeth in a patient with cleidocranial dysplasia. Am J Orthod Dentofacial Orthop. 2007; 131:666-669 https://doi.org/10.1016/j.ajodo.2005.06.026
Davies TM, Lewis DH, Gillbe GV The surgical and orthodontic management of unerupted teeth in cleidocranial dysostosis. Br J Orthod. 1987; 14:43-47 https://doi.org/10.1179/bjo.14.1.43
da Cunha LF, Caetano IM, Dalitz F Cleidocranial dysplasia case report: remodeling of teeth as aesthetic restorative treatment. Case Rep Dent. 2014; 2014 https://doi.org/10.1155/2014/901071
Croll TP, Cavanaugh RR Enamel color modification by controlled hydrochloric acid-pumice abrasion. I. technique and examples. Quintessence Int. 1986; 17:81-87
Zachrisson BU, Mjör IA Remodeling of teeth by grinding. Am J Orthod. 1975; 68:545-553 https://doi.org/10.1016/0002-9416(75)90085-8
Zachrisson BU, Nyøygaard L, Mobarak K Dental health assessed more than 10 years after interproximal enamel reduction of mandibular anterior teeth. Am J Orthod Dentofacial Orthop. 2007; 131:162-169 https://doi.org/10.1016/j.ajodo.2006.10.001
Fahl N, Denehy GE, Jackson RD Protocol for predictable restoration of anterior teeth with composite resins. Oral Health. 1998; 88:15-22
Levin EI Dental esthetics and the golden proportion. J Prosthet Dent. 1978; 40:244-252 https://doi.org/10.1016/0022-3913(78)90028-8
Lombardi RE The principles of visual perception and their clinical application to denture esthetics. J Prosthet Dent. 1973; 29:358-382 https://doi.org/10.1016/s0022-3913(73)80013-7
Snow SR Esthetic smile analysis of maxillary anterior tooth width: the golden percentage. J Esthet Dent. 1999; 11:177-184 https://doi.org/10.1111/j.1708-8240.1999.tb00397.x
Dann JJ, Crump P, Ringenberg QM Vertical maxillary deficiency with cleidocranial dysplasia. Diagnostic findings and surgical-orthodontic correction. Am J Orthod. 1980; 78:564-574 https://doi.org/10.1016/0002-9416(80)90307-3
Iida S, Kogo M, Aikawa T Maxillary distraction osteogenesis using the intraoral distractors and the full-covered tooth-supported maxillary splint. J Oral Maxillofac Surg. 2007; 65:813-817 https://doi.org/10.1016/j.joms.2005.10.062
Habal MB, Leake DL, Maniscalco JE, Kim J Repair of major cranio-orbital defects with an elastomer-coated mesh and autogenous bone paste. Plast Reconstr Surg. 1978; 61:394-404 https://doi.org/10.1097/00006534-197803000-00014
McGuire TP, Gomes PP, Lam DK, Sándor GK Cranioplasty for midline metopic suture defects in adults with cleidocranial dysplasia. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007; 103:175-179 https://doi.org/10.1016/j.tripleo.2006.02.014
Ozkan G, Kanli A Clinical and radiological manifestations of cleidocranial dysplasia: a case report. Indian J Dent. 2013; 4:174-177 https://doi.org/10.1016/j.ijd.2012.10.011
Sarwer DB, Bartlett SP, Whitaker LA Adult psychological functioning of individuals born with craniofacial anomalies. Plast Reconstr Surg. 1999; 103:412-418 https://doi.org/10.1097/00006534-199902000-00008
Rocha R, Zasso MB, Floriano G Orthodontic traction in a patient with cleidocranial dysplasia: 3 years of follow-up. Am J Orthod Dentofacial Orthop. 2014; 146:108-118 https://doi.org/10.1016/j.ajodo.2013.09.016
Chang H, Wei J, Wang Y Restorative treatment strategies for patients with cleidocranial dysplasia. Acta Odontol Scand. 2015; 73:447-453 https://doi.org/10.3109/00016357.2014.983541

A review of the dental management of cleidocranial dysplasia

From Volume 18, Issue 1, February 2025 | Pages 33-44

Authors

Lina Alfadil

BDS (Hons), DClinDent (Orth), MOrth RCS (Eng), MOrth RCS (Edin), Orthodontic Cleft and Craniofacial Clinic Fellow, Great Ormond Street Hospital, London

Articles by Lina Alfadil

Email Lina Alfadil

Paras Jiteshkumar Haria

BDS (Lond), iBSc (Hons), MFDS RCSEd, MOrth RCSEd, MSc, FDS(Orth) RCSEd, FHEA, Consultant in Orthodontics, Royal London Hospital and Great Ormond Street Hospital, London

Articles by Paras Jiteshkumar Haria

Priya Haria

BDS, MFDS, MClinDent (Orth), MOrth RCS (Eng), FDS (Orth) RCS (Eng)

Articles by Priya Haria

Daljit Gill

BDS(Hons), BSc(Hons), MSc, FDS RCS, MOrth RCS, FDS(Orth) RCS(Eng), FHEA

BDS, BSc, MSc, FDS RCS, MOrth, FDS (Orth) RCS (Eng)

Articles by Daljit Gill

Brijesh Patel

BDS (Hons), MFDS, MSc (Orth), MOrth, FDS (Orth) RCS (Eng)

Articles by Brijesh Patel

Simon Critchlow

BDS, MSc (RestDent), MFDS RCS (Ed), FDS (RestDent) RCS (Ed)

Articles by Simon Critchlow

Robert Evans

MScD, FDS RCS(Eng), MOrth RCS(Ed)

MScD, M Orth RCS (Ed), FDS RCS (Ed)

Articles by Robert Evans

Abstract

Cleidocranial dysplasia, linked to a mutation in the RUNX2 gene, is characterized by defective endochondral and intra-membranous bone formation. General features include a combination of aplasia or hypoplasia of one or both clavicles, a short skull, delayed ossification of the fontanelles and short stature. Dental anomalies include delayed exfoliation of primary teeth, multiple supernumerary teeth and multiple impacted teeth. The dental management of such cases is complicated. This review summarizes the multiple treatment strategies for the dental management of cleidocranial dysplasia. Combined orthodontic and surgical approaches, as well as prosthetic rehabilitation, are discussed.

CPD/Clinical Relevance: To highlight the importance of a multidisciplinary, individualized approach to the dental management of patients with cleidocranial dysplasia.

Article

Cleidocranial dysplasia (CCD) (OMIM 119600) is also referred to as cleidocranial dysostosis, Marie–Sainton syndrome and osteodental dysplasia. The condition, including a combination of aplasia or hypoplasia of one or both clavicles, short skull, delayed ossification of the fontanelles and short stature, was independently described by Scheuthauer,1 and Marie and Sainton2 in the late nineteenth century.

Table 1 provides a summary of some of the background information on CCD. The condition has a prevalence of 0.5 per 100,000 live births3 and affects males and females equally. CCD affects all ethnic groups and has a wide geographic distribution.4 The majority of children with CCD have normal intelligence. They need to be monitored since they may experience orthopaedic complications, dental abnormalities, upper airway obstruction, sinus and ear infections, hearing loss and osteoporosis. Children with CCD should be under the care of multiple teams, including general paediatricians, orthopaedic surgeons, craniofacial or neurosurgical specialists, ear, nose and throat specialists, audiologists, paediatric dentists, oral and maxillofacial surgeons, orthodontists and medical geneticists.

Register now to continue reading

Thank you for visiting Orthodontic Update and reading some of our resources. To read more, please register today. You’ll enjoy the following great benefits:

What's included

  • Up to 2 free articles per month
  • New content available