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Table of Contents
CASE REPORT
Year : 2022  |  Volume : 15  |  Issue : 1  |  Page : 50-52

Multiplanar imaging in a familial case of cleidocranial dysplasia and various orthodontic-surgical protocols approved for its treatment


1 Department of Oral Medicine and Radiology, Yenepoya Dental College, Yenepoya (Deemed to be University), Mangalore, Karnataka, India
2 Department of Oral Medicine and Radiology, NITTE (Deemed to be University), AB Shetty Memorial Institute of Dental Sciences, Mangalore, Karnataka, India
3 Department of Pediatric Rehabilitation, Yenepoya Physiotherapy College, Yenepoya (Deemed to be University), Mangalore, Karnataka, India

Date of Submission17-Sep-2021
Date of Decision25-Oct-2021
Date of Acceptance01-Nov-2021
Date of Web Publication25-Mar-2022

Correspondence Address:
Renita Lorina Castelino
Department of Oral Medicine and Radiology, NITTE (Deemed to be University), AB Shetty Memorial Institute of Dental Sciences, Mangalore, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/hmj.hmj_61_21

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  Abstract 


Introduction: Cleidocranial dysplasia (CCD) is a rare autosomal-dominant disorder that results in defective ossification. The gene responsible for pathogenesis has been mapped to the short arm of chromosome 6p21 core-binding factor alpha-1 or runt-related transcription factor-2. The condition being a complex congenital disorder with numerous skeletal and dental anomalies, its management depends considerably on the patient's ambitions, age, economic status and permanent dentition status, endodontic and periodontal health. Case Report: A 17-year-old female reported with complaint of misaligned teeth and desired orthodontic treatment. The patient had been diagnosed with CCD during childhood but, seemingly, with no previous management. Family wise patient's mother presented with features of CCD but no previous health records. A familial case report of CCD is presented with a brief explanation of various orthodontic-surgical methods carried out for its treatment Conclusion: CCD is a rare disorder, with no universally acknowledged treatment plan; hence, it is appropriate to involve a multidisciplinary team for its management.

Keywords: Case report, cleidocranial dysplasia, orthodontic-surgical treatment


How to cite this article:
Buch SA, Castelino RL, Babu SG, Baba MR. Multiplanar imaging in a familial case of cleidocranial dysplasia and various orthodontic-surgical protocols approved for its treatment. Hamdan Med J 2022;15:50-2

How to cite this URL:
Buch SA, Castelino RL, Babu SG, Baba MR. Multiplanar imaging in a familial case of cleidocranial dysplasia and various orthodontic-surgical protocols approved for its treatment. Hamdan Med J [serial online] 2022 [cited 2022 May 28];15:50-2. Available from: http://www.hamdanjournal.org/text.asp?2022/15/1/50/340823




  Introduction Top


Cleidocranial dysplasia (CCD), (OMIM 119,600), a rare autosomal dominant disorder affects 1 in 1,000,000 people worldwide.[1] CCD occurs due to mutations in the runt-related transcription factor 2 (RUNX2) gene, a vital gene for osteoblast differentiation, osteoclastogenesis in the dental follicle and the periodontal ligament, and for the regression of the dental lamina.[2] The phenotype spectrum of CCD varies greatly from mild dental abnormalities to severe skeletal changes, with no direct relationship between the severity of skeletal changes and the dental findings.[3] The earliest history of a possible case of CCD dates back to pre-historic times, in the form of a Neanderthal skull only to be documented by Greig in 1933.[4] The first recognised CCD case report was published by Professor Johann Frederick Meckel the Elder, of the University of Halle, in 1760.[5] A number of case reports followed, and later in 1897 and 1898, Marie and Sainton presented two successive cases and formally named the condition as cleidocranial dysostosis,[6],[7] which was later changed to CCD. CCD predominantly affects bones that involve membranous development. The affected individuals present with long appearing neck, short stature and extensively slopping shoulders. Craniofacial abnormalities, hypo-plastic or absent clavicles, narrower thorax, delayed closure of pubic symphysis and knock knees constitute the classic symptoms in CCD.[8] The clavicle deficiency and narrow thorax enable individuals to approximate their shoulders in front of the chest. The mental development remains unaffected in CCD.


  Case Report Top


A 17-year-old female patient approached our hospital for an orthodontic evaluation, complaining of dental cross bite and failure of eruption of permanent teeth. The patient had already been diagnosed with CCD in her early childhood and gave no history of any dental management. The patient had no other known conditions. The patient's general examination revealed short stature, macrocephaly, mid-facial hypoplasia, depressed nasal bridge, pointed chin and ability to approximate both the shoulders towards the middle of the chest [Figure 1]a. Family wise, the patient's mother was also a known case of CCD with no history of any treatment [Figure 1]e. The panoramic radiograph of the patient [Figure 1]b showed a lack of shedding of numerous deciduous teeth, multiple supernumerary teeth and impacted permanent teeth and similar features in her mother's mandible [Figure 1]f. PA skull view of the patient [Figure 1]c and her mother [Figure 1]g revealed delayed ossification of calvarial bones and open metopic suture. The clavicular aplasia was evident on the patient's chest X-ray [Figure 1]d. The patient's mother refused any further investigations and treatment for herself but showed concern and urgency towards the treatment of her daughter (the patient). The patient consent was obtained for cone beam computed tomography (CBCT) scan which revealed detailed dental status in various axial planes of maxilla and mandible [Figure 2]a. CBCT proface and enhanced depth three-dimensional reconstructions of the patient revealed clustered dentition consisting of multiple retained primary teeth, supernumerary teeth and permanent impacted teeth, shown within the white coloured rectangle [Figure 2]b. The patient was referred to the craniofacial department of our institution for further evaluation and treatment.
Figure 1: Patient (a) The characteristic facial appearance, bulky forehead with depressed central area, pointed chin and extreme ability to approximate the shoulders towards the chest (b) Patient's panoramic view reveals supernumerary teeth, impacted permanent teeth and non-exfoliated primary teeth (c) Open metopic suture, patent anterior fontanel and inverted pear shaped skull (brachycepahly) (d) Clavicular aplasia. Patient's Mother (e) Features of cleidocranial dysplasia, macrocephaly and depressed nasal bridge (masked) (f) Classic signs of parallel ramis, supernumerary and impacted permanent teeth in the mandible (g) Open metopic suture, electric bulb shaped skull

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Figure 2: Patient (a) Patient's cone beam computed tomography reveals teeth in different axial sections of maxilla and mandible (b) Cone beam computed tomography proface and enhanced depth 3D view shows supernumerary teeth, non-exfoliated primary teeth and impacted permanent teeth in a clustered fashion (within square)

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  Discussion Top


The craniofacial manifestations of CCD include a brachycephalic skull (with more than normal transverse diameter of the cranium), delayed ossification of skull sutures, prominent frontal and parietal bones, bossing of occiput, wormian bone, hypertelorism of the eyes and a nose with a broad base.[9] The exfoliation of primary dentition is delayed, and as a result, multiple permanent teeth remain impacted and sometimes erupt late; in addition, multiple impacted supernumerary teeth are noticed.[8] These dental abnormalities are seen almost in all the cases. The skeletal problems in CCD do not have any specific treatment; the patients have a tendency for a dislocated shoulder and osteoarthritis, during adulthood, therefore require proper follow-up and evaluation.[10] The CCD patients are less concerned about their skeletal deficits, and usually seek treatment for various dental abnormalities, that include speech and cosmetic concerns.

The eruption of impacted permanent teeth in CCD is facilitated by removal of supernumerary teeth and overlying bone. This surgical exposure of impacted teeth is followed by immediate orthodontic treatment and sometimes with orthognathic intervention. The four routinely used surgical-orthodontics combination treatment types include (1) Toronto-Melbourne, (2) Jerusalem, (3) Belfast-Hamburg, and (4) Bronx approaches.

The Toronto-Melbourne method is carried out at the age of 5–6 years and begins with serial extractions of primary teeth followed by the removal of superficial alveolar bone cover and supernumerary teeth. The aim is to stimulate eruption of impacted permanent teeth without a need for any orthodontic intervention. The Jerusalem approach is a two-stage surgical intervention, the first phase of which involves extraction of anterior primary teeth and supernumerary teeth to expose permanent incisors at 10–12 years. The second stage is performed after 13 years of age and involves extraction of all the posterior teeth to pave way for the eruption of impacted permanent canines and premolars. This approach, however, requires a further orthodontic traction for the eruption of impacted permanent teeth as two-thirds of their roots have already formed at 12 years. In the Belfast-Hamburg method, impacted permanent teeth are exposed by extracting all the deciduous and supernumerary teeth. This procedure is similar to Jerusalem approach, but the age of intervention is not specified and is carried out under general anaesthesia. Once adequate healing occurs, orthodontic traction is employed. In the Bronx technique, a removable partial overdenture is fabricated in the first phase, after the removal of primary and supernumerary teeth. The denture serves both the aesthetic and functional roles. Once the impacted permanent teeth erupt and offer adequate support orthodontic treatment is initiated, followed by a Le Forte I osteotomy. The final phase involves the placement of implants to fill voids in the dentition.


  Conclusion Top


Early diagnosis is vital for the successful management of CCD. The clinicians need to be aware of the main defining features of CCD in order for timely diagnosis and planning the most customised treatment protocol based on the stage it is encountered. It is suggested to use an individual management method, based on the needs and aspirations of the patient. It is also recommended to highlight the age at which CCD is diagnosed, in addition to varying social and economic aspects while designing a treatment protocol.

Declaration of patient consent

The authors certify that an appropriate parental consent form has been obtained with permission to use images and clinical information to be reported for the journal. The parent understands that the name of the child and theirs will not be published and due efforts will be made to conceal the identity.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Greene SL, Kau CH, Sittitavornwong S, Powell K, Childers NK, MacDougall M, et al. Surgical management and evaluation of the craniofacial growth and morphology in cleidocranial dysplasia. J Craniofac Surg 2018;29:959-65.  Back to cited text no. 1
    
2.
Kreiborg S, Jensen BL. Tooth formation and eruption – Lessons learnt from cleidocranial dysplasia. Eur J Oral Sci 2018;126 Suppl 1:72-80.  Back to cited text no. 2
    
3.
Ha SW, Jung YJ, Bae HS, Ryoo HM, Cho IS, Baek SH. Characterization of dental phenotype in patients with cleidocranial dysplasia using longitudinal data. Angle Orthod 2018;88:416-24.  Back to cited text no. 3
    
4.
Greig DM. A neanderthaloid skull presenting features of cleidocranial dysostosis and other peculiarities. Edinb Med J 1933;40:497-557.  Back to cited text no. 4
    
5.
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.  Back to cited text no. 5
    
6.
Marie P, Sainton P. Observation d'hydrocéphalie héréditaire (père et fils) par vice de development du crane et du cerveau. Bull Soc Med Hop Paris 1897;14:706-12.  Back to cited text no. 6
    
7.
Marie P, Sainton P. On hereditary cleidocranial dysostosis. Rev Neurol 1898;6:835.  Back to cited text no. 7
    
8.
Li J, Shen J, Xu J, Weng L, Pan J, Lin J. The treatment strategy of cleidocranial dysplasia: Combined orthodontic and orthognathic treatment. J Craniofac Surg 2019;30:1767-71.  Back to cited text no. 8
    
9.
Zhu Y, Zou Y, Yu Q, Sun H, Mou S, Xu S, et al. Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: Case report and review of the literature. Orphanet J Rare Dis 2018;13:217.  Back to cited text no. 9
    
10.
Medina O, Muñoz N, Moneriz C. Cleidocranial dysplasia: A case report. Rev Chil Pediatr 2017;88:517-23.  Back to cited text no. 10
    


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