|Year : 2012 | Volume
| Issue : 3 | Page : 176-179
Romila Goyal1, Harjit Kaur1, Anup Singh Virdi2
1 Department of Periodontology and Oral Implantology, Guru Nanak Dev Dental College and Research Institute, Sunam, Punjab, India
2 Consultant Orthopaedic Surgeon Virdi Hospital and Dental Care Centre, Adampur, Doaba, India
|Date of Submission||24-Nov-2012|
|Date of Acceptance||14-Jan-2012|
|Date of Web Publication||29-Apr-2013|
Department of Periodontology and Oral Implantology, Guru Nanak Dev Dental College and Research Institute, Sunam, Punjab
Source of Support: None, Conflict of Interest: None
Cleidocranial dysplasia previously known as cleidocranial dysostosis is a rare hereditary disease characterized by abnormalities in the skull, jaws, and shoulders as well as in the dentition. The disease usually follows an autosomal dominant mode of transmission. This disease concerns the dental surgeon as there are a large number of impacted and supernumerary teeth.
Keywords: Autosomal dominant, cleidocranial dysplasia, Runx 2 gene, supernumerary teeth
|How to cite this article:|
Goyal R, Kaur H, Virdi AS. Cleidocranial dysplasia. Indian J Oral Sci 2012;3:176-9
| Introduction|| |
Cleidocranial dysplasia (Ccd) is a rare congenital disorder and was referred to as cliedocranial dysostosis previously. The syndrome was first described by Marie and Sainton in 1898 as a rare development condition in which the leading features were aplasia of clavicles, exaggerated development of the transverse diameter of cranium, delayed closure of fontanelles and disorders of jaws and dentition. It affects men and women equally.  The prevalence is less than 1 per million. The defect often appears in several successive generations. It is characterized by abnormalities of skull, dentition, jaws and clavicles. It is seen that fontanels are open despite the age of the patient far beyond the normal closure time. ,,,,, The profile of the patient is concave due to underdeveloped maxilla.  The bridge of the nose is broad and depressed. The mandible appears to be prognathic with a depressed forehead. The most striking oral abnormalities are the failure of eruption of the permanent teeth with multiple unerupted supernumerary teeth.
Jensen and Kreiborg have reported that the ascending ramus was parallel-sided and that the coronoid pointed with a distal curvature in Ccd patients. They also reported that in Ccd the zygomatic bones were hypoplastic, thin or even discontinuous at the zygomaticotemporal suture, ranging in width from 1 mm to 5 mm. 
Ccd shows an autosomal dominant inheritance. It is associated with a spontaneous mutation in the gene coding for osteoblast transcription factor Runx 2, which is essential for osteoblasts and dental cell differentiation as well as for bone and tooth formation. Runx 2 also known as OSH2, Cbfa1, PEBP2Aa, AML-3 belongs to runt domain gene family.  In this article, we present a case report of female with the typical features of Ccd. The pathology is due to an early developmental disorder of mesenchyme or connective tissue, causing retarded ossification of bone precursors, especially at junctions, which can lead to defective ossification or even failure of ossification of portions of skeletal structures. The syndesmosis between cranial bones and the symphysis of other bones are basically connective tissue junctions. The medial and lateral centers of ossification of the clavicles are separated by a fibro-cellular structure. 
Counts et al. reported that Ccd is a systemic disorder that manifests itself as a condition in which teeth fail to erupt. It is logical to assume that the formation and maintenance of root cementum could be affected. The anomaly manifests as almost complete absence of cellular cementum and an increase in the amount of acellular cementum of the roots of the affected teeth. This was thought to be the probable cause for failure of eruption of a significant number of teeth in patients affected with Ccd. 
Diagnosis is made by clinical and radiographical findings. Serum alkaline phosphatase activity has been observed to be consistently reduced in patients suffering from Ccd.  The condition is of clinical significance to the dentist because of the involvement of the facial bones and the presence of a large number of impacted supernumerary teeth.
| Case Report|| |
A 34-year-old Asian female of Indian origin reported to the Department of Periodontology and Oral Implantology. Her chief complaint was missing teeth and she wanted the replacement of missing teeth. On general examination she was of average height. She had depression in forehead [Figure 1]. Midface was depressed because of underdeveloped maxilla [Figure 2]. She had drooping shoulders [Figure 3].
|Figure 1: Patient of Cliedocranial dysplasia showing depression in the fore head|
Click here to view
|Figure 2: Patient`s profile showing cocavity due to under developed maxilla|
Click here to view
The patient was unmarried. She had two brothers. Neither her brothers nor her parents were affected.
| Intraoral Examination|| |
The patient had a narrow highly arched palate. The dentition consisted mainly of deciduous teeth with a few permanent teeth in either arch [Figure 4].
The teeth were imbricated and general oral hygiene was moderate. Her lower right deciduous canine was carious. The oral and tongue mucosa were normal.
| Radiological Findings|| |
The orthopantogram showed the presence of impacted supernumerary teeth. The supernumerary teeth were more in mandible as compared to maxilla [Figure 5].
|Figure 5: Orthopantogram showing a large number of supernumerary teeth, deepening of mandibular notch and lack of definition of neck of condyle|
Click here to view
On examination of radiographs of skull, there was extended groove between two parietal bones upto the occipit, lateral view showed open skull sutures [Figure 6]. The hypo plastic appearance of maxilla and zygomatic complex was clearly evident in the lateral view of skull radiograph. X-ray chest showed defective formation of both clavicles and narrowing of thoracic cage.
|Figure 6: Skull radiograghs showing open anterior fontanel and sutures of skull|
Click here to view
| Discussion|| |
Based on the clinical and radiographic findings, the diagnosis of Ccd was made. Two third of the reported cases are familial, in some cases the condition was found in as many as five successive generations. In our case, the patient did not report the existence of direct ancestors or descendents who presented any of the clinical characteristic of Ccd. Ccd gene has been mapped to chromosome 6 p21 within the region containing the CBFA1(Core binding factor a-1) gene, which controls differentiation of precursor cells into osteoblasts and is essential for membranous as well as endochondral bone formation, which may be related to delayed ossification of the skull, teeth, pelvis and extremities in Ccd.  The main defect lies in faulty ossification of selected endochondral and intra membranous bones, and although any bone may be affected, a classical triad of cranial, clavicular and pelvic anomalies comprise the most striking changes.  The narrow highly arched palate, the retention of deciduous teeth, delayed eruption of permanent teeth and the presence of large number of impacted supernumerary teeth are all classical oral findings in Ccd. 
Dental changes occur frequently and are very characteristic of Ccd. Retention of the deciduous dentition with delayed eruption of the permanent teeth is a relatively constant finding. The failure in the eruption can be related with the absence or less amount of cellular cementum in the permanent teeth roots. This was also claimed by Smith, who had observed the absence of cellular cementum in the deciduous and permanent dentition.  Dental disability begins in late youth with the progressive morbidity and loss of the deciduous dentition. Many patients remember living without teeth for some years until the permanent teeth eventually erupted. Permanent teeth show a delay of root development and a less but not entirely absent eruptive potential. The situation is further complicated by the presence of multiple supernumerary teeth that displace the developing permanent teeth and obstruct their eruption. 
There is no treatment for Ccd although care of oral conditions is important. A multi-disciplinary approach should be planned. The retained deciduous teeth should be restored if they become carious. Prosthesis should be given for the missing teeth. Multiple surgical exposure of the unerupted teeth and orthodontic treatment to establish an intact and aligned dental arch can be done. The patient should be advised for regular and proper oral hygiene measures. The patient refused elaborate surgical correction. She was only keen to get her missing teeth replaced.
| Conclusion|| |
Ccd patients are required to be diagnosed at an early stage so that Oro-surgical and Orthodontic correction can be done, so that patient does not confront a major dental problem in the later stage. Follow up is essential to check the development of odontogenic cysts.
This has been reported to focus on unusual findings so that medical and dental professionals become familiarized with such features on confronting the patient of Ccd.
| References|| |
|1.||Shafer WG, Hine MK, Levy BM, Tormich CE. Diseases of specific systems: Diseases of bone and joints. A text book of oral pathology. 4 th ed. Philadelphia: Saunders; 2000. p. 678-80. |
|2.||Murdoch-Kinch CA. Developmental disturbances of face and jaws. In-White SC, Pharoah MJ. Oral Radiology Principles and Interpretation. 5 th ed. St. Louis: Mosby 2004: p 646-9. |
|3.||Regezi JA, Sciubba JJ. Clinical Pathologic Correlations, Oral Pathology: Clinical Pathologic Correlations. 3 rd ed. Philadelphia: Saunders; 1999. p. 434-6. |
|4.||Waal I, Kwast WA. Some Congenital Lesions, Developmental disturbances and syndromes in the head and neck, Oral Pathology. Chicago: Quintessence: 1988. p 324-5. |
|5.||Cawson RA, Odell EW, Porter S. Genetic, Metabolic and Other neoplastic Bone Diseases, Cawson's Essentials of Oral Pathology and Oral Medicine, 7 th ed. Edinburgh: Churchill Livingstone; 2002. p-155-6. |
|6.||Russell RCG, Williams NS, Bulstrode CJ. Paediatric Orthopaedics: Normal development and congenital disorders. Ailey and Love's Short Practice of Surgery, 24 th ed. London: Arnold; 2004; p. 478. |
|7.||Richardson A, Deussen FF. Facial and dental anomalies in cleidocranial dysplasia: A study of 17 cases. Int J Paediatr Dent 1994;4:225-31. |
|8.||Jensen BL, Kreiborg S. Craniofacial abnormalities in 52 school-age and adult patients with cleidocranial dysplasia. J Craniofac Genet Dev Biol 1993;13:98-108. |
|9.||Markovic MD. At the crossroads of oral facial genetics. Eur J Orthod 1992;14:469-81. |
|10.||Feldmann VB. Cleidocranial dysplasia: A case report. J Can Chiropr Assoc 2002;46:185-91. |
|11.||Counts AL, Rohrer MD, Prasad H, Bolen P. An assessment of root cementum in cleidocranial dysplasia. Angle Orthod 2001;71:293-8. |
|12.||Manjunath K, Kavitha B, Saraswathi TR, Sivapathasundharam B, Manikandhan R. Cementum analysis in cleidocranial dysostosis. Indian J Dent Res 2008;19:253-6. |
|13.||Haque MA, Ekram ARMS, Huda MD. Cliedocranial dysplasia: A case report. J Teach Assoc 2008;21:166-9. |
|14.||Shafer WG, Hine MK, Levy BM. Diseases of bone and joints: Cleidocranial dysplasia. Oral Pathology. 4 th ed. Philadelphia: Saunders; 1984; p. 363-5. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]