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 Table of Contents  
CASE REPORT
Year : 2014  |  Volume : 26  |  Issue : 2  |  Page : 233-236

Cleidocranial dysplasia presenting with retained deciduous teeth and impacted permanent and supernumerary teeth


Department of Oral Medicine and Radiology, Sri Rajiv Gandhi College of Dental Sciences and Hospital, Bangalore, Karnataka, India

Date of Submission30-Jun-2014
Date of Acceptance26-Sep-2014
Date of Web Publication30-Oct-2014

Correspondence Address:
Mahalakshmi Ikkanur Puttaranganaik
Department of Oral Medicine and Radiology, Sri Rajiv Gandhi College of Dental Sciences and Hospital, Cholanagar, RT Nagar, Bangalore - 560 032, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.143714

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   Abstract 

Cleidocranial dysplasia is a disease that occurs secondary to a dominant autosomal inheritance. There is no predilection for any genre or ethnic group. As there is a delay in the eruption and/or absence of permanent teeth, the patients usually report to a dental surgeon for replacement of the missing teeth. This condition is characterized by several cranial malformations and underdevelopment, absence of clavicles, and multiple impacted supernumerary and permanent teeth. The diagnosis of the condition is usually based on the presence of the above-mentioned main features and on clinical and familial evidence. Here we report a rare case of cleidocranial dysplasia in a male patient, having most of the characteristic features of this syndrome.

Keywords: Cleidocranial dysplasia, hypoplastic clavicles, supernumerary teeth


How to cite this article:
Puttaranganaik MI, Nagaraj T, Nadig SD, Sinha P. Cleidocranial dysplasia presenting with retained deciduous teeth and impacted permanent and supernumerary teeth . J Indian Acad Oral Med Radiol 2014;26:233-6

How to cite this URL:
Puttaranganaik MI, Nagaraj T, Nadig SD, Sinha P. Cleidocranial dysplasia presenting with retained deciduous teeth and impacted permanent and supernumerary teeth . J Indian Acad Oral Med Radiol [serial online] 2014 [cited 2019 Nov 23];26:233-6. Available from: http://www.jiaomr.in/text.asp?2014/26/2/233/143714


   Introduction Top


Cleidocranial dysplasia (CCD), also known as Marie and Sainton Disease, Scheuthauer Marie-Sainton Syndrome and Mutational dysostosis, is a rare disease that can occur either spontaneously or by a dominant autosomal inheritance, with no predilection of genre or ethnic group. [1] Cleidocranial dysplasia is a well-known, rare syndrome, usually caused by an autosomal dominant gene with high penetrance and a variable degree of expression. This condition is usually caused by a mutation of the core binding factor-α 1 gene, located at chromosome 6p21. However, 40% of the cases of CCD appear spontaneously, with no apparent genetic cause. The prevalence of CCD is 1/1,000,000, with higher rates in groups with a founder effect.

The main features of CCD are partial or complete absence of the clavicles, multiple supernumerary teeth, multiple impacted permanent teeth, retention of deciduous teeth, and delayed closure of the sagittal fontanelles. Reduced sutural maxillary growths can also occur. [2] Many CCD patients have the following triad of the features - multiple supernumerary teeth, partial or complete absence of the clavicles, and open sagittal sutures and fontanelles. Oral manifestations show a narrow and deep palate. The maxilla can be underdeveloped and shorter than normal. Another important finding is the crown and root anomalies in the supernumerary teeth, which are impacted and ectopic. [1]

Many approaches have been suggested for the treatment of such problems, including removal of the impacted permanent, supernumerary, and deciduous teeth, combined with insertion of an overdenture. Surgical removal of the deciduous and supernumerary teeth, combined with orthodontic traction of the impacted permanent teeth is another option.


   Case Report Top


A 30-year-old male patient came to the Department of Oral Medicine and Radiology. His chief complaint was missing teeth and he wanted a prosthesis. Upon general examination, he was of a short stature and his gait was normal [Figure 1].The patient had hypermobility of the shoulders [Figure 2]. On extraoral examination, it was found that he had frontal bossing, hypertelorism, and a wide nasal bridge. The midface was a little depressed because of an underdeveloped maxilla and the mandible appeared prognathic [Figure 3] and [Figure 4]. Intraoral examination revealed presence of the following teeth: 51, 52, 53, 55, 16, 17, 61, 62, 63, 64, 26, 27, 73, 74, 75, 36, 82, 83, 84, 85, and 46 [Figure 5].
Figure 1: Short stature of the patient

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Figure 2: Hypermobility of the shoulders

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Figure 3: Frontal facial photograph showing hypertelorism

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Figure 4: Facial profi le photograph showing depressed nasal bridge and prognathic mandible

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Figure 5: Intraoral view

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On the basis of the clinical examination, the patient was diagnosed as having cleidocranial dysplasia, for which the differential diagnoses included hypohidrotic ectodermal dysplasia, focal dermal hypoplasia, Apert syndrome, and mandibulofacial dysplasia.

Furthermore, the orthopantomogram outlined the presence of 58 teeth in both the jaws. Out of these, 37 teeth were impacted and 21 were clinically present in the oral cavity [Figure 6]. The posteroanterior (PA) view of the skull showed an open anterior fontanelle and sutures of the skull [Figure 7]. A lateral view of the skull showed enlarged skull bones, along with multiple wormian bones [Figure 8]. The chest radiograph showed hypoplastic appearance of the clavicles [Figure 9].
Figure 6: Orthopantomograph showing multiple impacted permanent and supernumerary teeth

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Figure 7: Posteroanterior view of the skull showing open anterior fontanelle

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Figure 8: Lateral skull showing wormian bones and open anterior fontanelle

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Figure 9: Chest radiograph showing hypoplastic clavicles

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According to the clinical and radiological findings, a diagnosis of cleidocranial dysplasia was given. The patient was referred to the Departments of Oral and Maxillofacial Surgery, and Prosthodontics, where extraction of the mobile teeth was planned, followed by insertion of a prosthesis.


   Discussion Top


Cleidocranial dysplasia is an autosomal dominant condition, characterized by generalized dysplasia of the bones and teeth. Owing to the defects in the clavicle and cranium, the term 'cleidocranial dysostosis' was coined by Marie and Sainton. [3]

Although there is a generalized involvement, the midline osseous structures are primarily involved. The prevalence of CCD has been estimated as one per million live births and the disorder is reported to be associated with a spontaneous mutation in the gene coding for osteoblast transcription factor RUNX2/Core binding factor and mapped to the chromosome 6p21. This factor is responsible for controlling the differentiation of the precursor cells into osteoblasts, which is essential for membranous as well as endochondral ossification. [4]

The clavicles are the first bones to ossify and/or are commonly affected, being either hypoplastic or aplastic. Complete absence of the clavicles occurs in about 10% of the cases and usually only the acromial end is absent. When there is a unilateral absence, it is usually the right clavicle. [4] In odontogenesis, RUNX2 regulates key epithelial mesenchymal interactions that control the progress of morphogenesis and histodifferentiation of the epithelial enamel organ. [5]

Cleidocranial dysplasia affects both males and females equally. The important clinical features include persistently open skull sutures, macrocephaly, brachycephaly, prominent forehead, hypertelorism, a depressed nasal bridge, midfacial hypoplasia, a narrow high-arched palate, delayed tooth eruption, enamel hypoplasia, a long neck, narrow sloping shoulders, a narrow thorax, absence of the clavicle, hands with finger length asymmetry due to extra epiphysis in metacarpals II and V, and multiple cone-shaped epiphyses, conductive deafness, scoliosis, a normal intelligence quotient, respiratory distress, growth retardation, recurrent sinus abnormalities, and occurrence of syringomyelia. [6] Our patient presented with most of these features, but lacked syringomyelia, asymmetric phalange length, scoliosis, and vertebral abnormalities.

Intraorally, the most striking feature of CCD is the presence of supernumerary teeth and impacted teeth, often located in the premolar area. Other dental abnormalities include incomplete and delayed eruption of the permanent teeth, as well as retention of the deciduous dentition. The causes of unerupted teeth are the disturbance of bone resorption, early loss of the gubernacular cord or canal, absence of cellular cementum, or lack of union between the dental follicle and the mucosa, due to interposed fibrous tissue, acting as a barrier to eruption. [7] The case reported had a total of 58 teeth in both the jaws, with 37 impacted teeth and 21 erupted teeth.

The skull shows typical characteristics, which include open metopic fontanelles and sutures, delayed suture closure, and multiple wormian bones. A frontal groove is seen in the midfrontal area, owing to this incomplete ossification. [8] The present case showed wormian bones and an open anterior fontanelle.

The differential diagnosis of this syndrome includes hypohidrotic ectodermal dysplasia, which includes hypohidrosis, anomalous dentition, onychodysplasia, and hypotrichosis; as also focal dermal hypoplasia characterized by relative focal absence of the dermis, skin atrophy, streaky pigmentation, multiple mucosal papillomas, and deformity of the extremities; Apert syndrome characterized by craniosynostosis, craniofacial abnormalities, and symmetrical syndactly of the hands and feet; pycnodysostosis mainly including a short-limbed stature, acro-osteolysis, osteosclerosis, and bone fragility; and craniofacial dysostosis, which is characterized mainly by premature craniosynostosis, with other abnormalities. [9],[10]

The treatment includes dental procedures to address the effects of the retention of deciduous dentition, presence of supernumerary teeth, non-eruption of the permanent dentition along with related malocclusion, and the periodontal conditions accompanying them. Maintenance of periodontal health is of prime concern in order to allow for an absolute and complete oral rehabilitation of the patient.

It was found that a diagnosis of the disorder should be made early so that the formation of supernumerary teeth can be diagnosed and early intervention undertaken. Sometimes, orthodontic extrusion of the impacted teeth is also required. Management of a patient with CCD is quite challenging. The earlier the treatment is initiated, the better is the prognosis. [4]


   Conclusion Top


In conclusion, despite the variable expressivity of CCD, early diagnosis through oral findings is possible. In addition to the oral features, diagnosis of this rare syndrome requires a reliable skeletal evaluation. This disorder not only causes physical discomfort to the patient, but also leads to psychological problems. Therefore, along with achieving a well-functional permanent dentition and an esthetically satisfying facial appearance, proper motivation and psychological support for the patients and their parents are also important.

 
   References Top

1.
Alves N, Oliveira R. Cleidocranial dysplasia - A case report. Int J Morphol 2008;26:1065-8.  Back to cited text no. 1
    
2.
Tanaka JL, Ono E, Filho EM, Castilho JC, Moraes LC, Moraes ME. Cleidocranial dysplasia: Importance of radiographic images in diagnosis of the condition. J Oral Sci 2006;48:161-6.  Back to cited text no. 2
    
3.
Mohan RP, Suma GN, Vashishth S, Goel S. Cleidocranial dysplasia: Clinico-radiological illustration of a rare case. J Oral Sci 2010;52:161-6.  Back to cited text no. 3
    
4.
Verma P, Verma KG, Gupta SD. Cleidocranial dysplasia: A dilemma in diagnosis? Arch Orofac Sci 2010;5:61-4.  Back to cited text no. 4
    
5.
Hemalatha R, Balasubramaniam MR. Cleidocranial dysplasia: A case report. J Indian Soc Pedod Prev Dent 2008;26:40-3.  Back to cited text no. 5
[PUBMED]  Medknow Journal  
6.
González López BS, Ortiz Solalinde C, Kubodera Ito T, Lara Carrillo E, Ortiz Solalinde E. Cleidocranial dysplasia: Report of a family. J Oral Sci 2004;46:259-66.  Back to cited text no. 6
    
7.
Manjunath K, Kavitha B, Saraswathi TR, Sivapathasundharam B, Manikandan R. Cementum analysis in cleidocranial dysostosis. Indian J Dent Res 2008;19:253-6.  Back to cited text no. 7
[PUBMED]  Medknow Journal  
8.
McNamara CM, O'Riordan BC, Blake M, Sandy JR. Cleidocranial dysplasia: Radiological appearances on dental panoramic radiography. Dentomaxillofac Radiol 1999;28:89-97.  Back to cited text no. 8
    
9.
Daskalogiannakis J, Piedade L, Lindholm TC, Sándor GK, Carmichael RP. Cleidocranial dysplasia: 2 generations of management. J Can Dent Assoc 2006;72:337-42.  Back to cited text no. 9
    
10.
Golan I, Baumert U, Hrala BP, Müssig D. Dentomaxillofacial variability of cleidocranial dysplasia: Clinicoradiological presentation and systematic review. Dentomaxillofac Radiol 2003;32:347-54.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]



 

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