Journal of Indian Society of Pedodontics and Preventive Dentistry
Journal of Indian Society of Pedodontics and Preventive Dentistry
                                                   Official journal of the Indian Society of Pedodontics and Preventive Dentistry                           
Year : 2011  |  Volume : 29  |  Issue : 3  |  Page : 251--254

Cleidocranial dysplasia: A report of two cases


DN Mehta1, RV Vachhani1, MB Patel2,  
1 Department of Oral Medicine and Radiology, Karnavati School of Dentistry,Uvarsad, Gandhinagar, Gujarat, India
2 Department of Orthodontias, Karnavati School of Dentistry,Uvarsad, Gandhinagar, Gujarat, India

Correspondence Address:
D N Mehta
23, Sunita Society, Beh. C.N. Vidhyalya, Bhudapura Road, Ambawadi, Bhudarpura Road, Ahmedabad 380 006
India

Abstract

Cleidocranial dysplasia (CCD) is an autosomal dominant disorder that presents with skeletal dysplasia. It commonly presents with significant dental problems such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth, and often with the presence of supernumerary teeth. We report two cases showing clinical and radiographic features of CCD.



How to cite this article:
Mehta D N, Vachhani R V, Patel M B. Cleidocranial dysplasia: A report of two cases.J Indian Soc Pedod Prev Dent 2011;29:251-254


How to cite this URL:
Mehta D N, Vachhani R V, Patel M B. Cleidocranial dysplasia: A report of two cases. J Indian Soc Pedod Prev Dent [serial online] 2011 [cited 2019 Dec 7 ];29:251-254
Available from: http://www.jisppd.com/text.asp?2011/29/3/251/85836


Full Text

 Introduction



Cleidocranial dysplasia (CCD), also known as Marie and Sainton Disease, Scheuthauer Marie-Sainton Syndrome, and Mutational dysostosis, is a rare disease which can occur either spontaneously or by a dominant autosomal inheritance. It is characterized by either absence of clavicles (10% cases) or hypoplastic clavicles that allow a patient to move the shoulders up to the medial plan of the body without any discomfort. Sutures of skull close lately or may remain open. Frontal, parietal, and occipital bones are prominent, and maxilla, paranasal sinuses, and zygomatic bones are underdeveloped. Another important finding is the presence of supernumerary teeth and impacted permanent teeth. [1],[2],[3],[4],[5],[6],[7],[8]

 Case Reports



Case 1

An 11-year-old patient came to the Department of OMR with a chief complaint of pain in upper right back tooth since 2 days. The patient's face showed hypertelorism, depressed nasal bridge, frontal prominence, and hypoplastic maxilla. The patient also showed short stature. The most striking feature was approximation of both shoulders near midline suggestive of hypermobility of shoulders [Figure 1] For pain in upper right back region, IOPA was advised which showed multiple impacted teeth with infected root piece of upper right deciduous first molar. So the patient was advised OPG which showed multiple supernumerary and impacted teeth in maxilla and mandible [Figure 2] A chest X-ray showed the absence of both the clavicles. A skull X-ray showed open skull sutures [Figure 3] {Figure 1}{Figure 2}{Figure 3}

Case 2

We reported another patient who was 14 years old and his complaint was missing of upper and lower anterior teeth. His extraoral appearance showed hypertelorism, depressed nasal bridge, frontal prominence, hypoplastic maxilla, and short stature. He also showed abnormal mobility of shoulders [Figure 4] The patient was advised OPG which showed impacted upper and lower anterior teeth with multiple impacted supernumerary teeth in lower anterior and premolar regions [Figure 5] A chest X-ray showed hypoplastic clavicle and a Skull X-ray showed open skull sutures [Figure 6].{Figure 4}{Figure 5}{Figure 6}

Both the cases were diagnosed clinically and radiographically as cleidocranial dysostosis. The second patient is now under orthodontic treatment with surgical exposure and forceful eruption of permanent teeth, while the first patient is not ready for the same.

 Discussion



CCD involves mutation in the transcription factor, Runx2 (essential for osteoblast and dental cell proliferation as well as for bone and tooth formation)/Cbfa1 (Core Binding Factor A1), located on chromosome 6p21. It primarily affects the bones undergoing intramembraneous ossification, especially skull, clavicles, and flat bones hence termed cleidocranial.

Clavicle is the first bone to ossify (fifth to sixth week of fetal life) and exhibits many deformities ranging from various degrees of hypoplasia and hypocalcification to complete the absence of clavicles. When the clavicles are completely absent, which occurs in 10% of the cases, the neck appears long, and the shoulders are drooping and hypermobile. [1],[3],[4],[5],[6],[7],[8] We reported hypermobileshoulders in both patients, more in case 1 as clavicle are absent in that patient. Chest X-rays showed the absence of clavicle in case 1 and hypoplastic clavicle in case 2.

Because of delayed mineralization, there may be abnormal dentition with late eruption and impaction of the deciduous and permanent teeth. The resorption of their root is delayed. Many of the deciduous teeth are retained throughout life and lie among the permanent teeth. The permanent teeth generally lose their eruption stimulus and stay embedded, while the deciduous teeth are retained. Extraction of deciduous teeth does not stimulate the eruption of the permanent teeth. Suggested factors of over retained deciduous teeth are lack of eruption potential and lack of cellular cementum on roots of permanent teeth, delayed mineralization of teeth, physical barrier - abnormal density of bone overlying the succedaneous teeth, and failure of bony crypt to resorb. The presence of multiple supernumerary teeth mainly in the mandibular premolar and anterior maxilla is common which appear similar to premolars. Suggested etiology for supernumerary teeth is incomplete or severely delayed resorption of the dental lamina, which is then reactivated at the time of crown completion in the normal permanent teeth. [1],[2],[3],[4],[5],[6],7] In case 1, we found multiple supernumerary teeth in maxilla and mandible. In case 2, we found impacted permanent maxillary and mandibular anterior teeth and supernumerary teeth in mandibular anterior and premolar regions.

Patients with CCD, small and angular appearance of the face is caused by narrowness at the maxillary region when there is underdevelopment of the premaxilla, maxilla, and zygomatic bones. Hypertelorism and deafness may be present. Broad and depressed nasal bridge is present. The chest is narrow/funnel shaped with or without oblique ribs. Both of our patients showed above-mentioned clinical features. Scapulae may be small and elevated and the presence of underdeveloped pelvis may produce small pelvic bowl. Short stubby fingers with rounded deep-set nails and spina bifida occulta may be present. [1],[2],[3],[4],[5],[6],[7]

Radiographically, except clavicle and dental features, the presence of brachycephaly, delayed or failed closure of the fontanel, open skull sutures (coronal and sagittal), and multiple wormian bones are common in patients with CCD. [1],[2],[3],[4],[5],[6],[7] In both of our patients, skull sutures were not closed.

The current treatment involves combination of orthodontics and maxillofacial surgery with timely extraction of deciduous teeth, surgical removal of supernumerary teeth, exposure of selected unerupted permanent teeth and orthodontic forced eruption, and fabrication of partial denture. [1],[3],[4],[5],[6],[7] In case 2, the patient was treated with the removal of deciduous upper lateral incisor, surgical removal of some supernumerary teeth and exposure of unerupted permanent teeth, and orthodontic forced eruption. In case 1, the patient was not ready unfortunately for any treatment.

 Conclusion



Despite the variable expression of CCD, early diagnosis through the oral findings can be achieved by dentists. A well functioning permanent dentition, as well as an aesthetically satisfying facial appearance may be achieved by interdisciplinary treatment when CCD is diagnosed in the early stages of childhood development.

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