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CASE REPORT
Year : 2008  |  Volume : 20  |  Issue : 1  |  Page : 23-27 Table of Contents   

Cleidocranial dysplasia: Report of 4 cases and review


Department of Oral Medicine and Radiology, Tamilnadu Government Dental Collage, Chennai-600 003, India

Correspondence Address:
S Jayachandran
Department of Oral Medicine and Radiology, Tamilnadu Government Dental Collage, Chennai - 600003
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.44357

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   Abstract 

Patients with cleidocranial dysplasia commonly present with significant dental problems such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth and often, the presence of supernumerary teeth. We report 4 cases of 2 families presenting with cleidocranial dysplasia disorder with their clinical and radiological diagnosis and illustrating its pathogenesis and various treatment modalities, review of literatures.

Keywords: Cleidocranial dysplasia, supernumerary teeth and RUNX2 gene


How to cite this article:
Gombra V, Jayachandran S. Cleidocranial dysplasia: Report of 4 cases and review. J Indian Acad Oral Med Radiol 2008;20:23-7

How to cite this URL:
Gombra V, Jayachandran S. Cleidocranial dysplasia: Report of 4 cases and review. J Indian Acad Oral Med Radiol [serial online] 2008 [cited 2019 Nov 21];20:23-7. Available from: http://www.jiaomr.in/text.asp?2008/20/1/23/44357


   Introduction Top


Cleidocranial dysplasia is a congenital disorder characterized by generalized dysplasia of osseous and dental tissue commonly resulting in defects in the skull, clavicles and teeth. Its manifestations include clavicular hypoplsia or agenesis with a narrow thorax, which allows approximation of the shoulders in front of the chest, delayed ossification of the skull. Diagnosis of cleidocranial dysplasia is made by clinical correlation and radiographic findings. It is an autosomal dominant condition, however the condition is classically characterized by deficient ossification of bones in membrane, though bones are formed by endochondral ossification can be affected. This condition is of clinical significance to the dentist due to the involvement of facial bones, altered eruption patterns and presence of multiple supernumerary teeth. [1],[2]


   Case Reports Top


Cases 1 and 2

A young 17 year old male came to our department of oral medicine and radiology for dental treatment with complaint of missing teeth for past 6 years. History revealed that there was absence of lower anterior teeth after exfoliation of lower deciduous teeth.

Clinical examination revealed that patient was apparently well with extraoral manifestations of hypertelorism, depressed nasal bridge, prominent frontal and parietal eminence and mild maxillary hypoplasia [Figure 1a]. Patient was able to approximate shoulders in front of chest [Figure 2], shoulders were narrow and drooping.

Intraorally [Figure 3] - 31, 41 and 42 were missing with multiple retained deciduous teeth, carious 85 and 11, 16, 21, 26, 36, 46 and 47 were missing along with high arched palate. Based on clinical examination orthopantomogram (OPG), chest X-ray, paranasal sinus view (PNS) and posteroanterior (PA) skull was advised.

Radiographic findings revealed multiple impacted permanent teeth. Multiple supernumerary teeth in all quadrants in premolar region were present. 17, 27 and 37 microdontia was present. Mandibular impacted teeth and maxillary premolars were having wide apex. 36 and 46 crown was narrower at cervical region and elongated narrow slender roots in 36 and 46. There was evidence of taurdontism in relation to 16 and 26. OPG revealed coronoid process was long with deep sigmoid notch bilaterally [Figure 4]. PA mandible and PNS view revealed open sagittal and coronal suture with narrow frontal, ethmoidal and maxillary sinuses, calvarial thickening of the supraorbital part of frontal bone was present [Figure 5]. PA view of chest revealed complete absence of clavicles bilaterally along with short oblique ribs [Figure 6].

Clinical and radiographic findings were suggestive of cleidocranial dysplasia. Due to genetic nature of the disorder, it was suspected that this could be present in other family members. On further examination, we found that patient's 13 year old brother and mother were also having same manifestations.

13 year old brother presented with clinical features of hypertelorism, wide nasal bridge, frontal and parietal bossing, maxillary hypoplasia [Figure 1b] and ability to approximate shoulders in front of chest. Intraorally multiple retained deciduous teeth were present and 51, 54, 61 and 85 were carious. High arched palate. OPG revealed multiple impacted supernumerary teeth and permanent teeth. PNS and PA mandible showed open anterior fontanelle, coronal, sagittal and frontal suture. Increased calvarial thickening of supraorbital region and agenesis of frontal sinus. Narrow maxillary and ethmoidal sinus.

Cases 3 and 4

One 21 year old female reported with the complaint of space between teeth and missing teeth. History showed absence of some permanent teeth after exfoliation of deciduous teeth.

Clinical examination - Extraoral manifestations of hypertelorism, depressed nasal bridge, prominent frontal and parietal bossing, mandibular prognathism and mild maxillary hypoplasia [Figure 7]. Shoulders were narrow and drooping. Patient was able to move shoulders in front of chest [Figure 8]. Intraorally multiple missing permanent teeth and multiple retained deciduous teeth were present [Figure 9]. 16 and 26 presented microdontia. Based on clinical examination, radiographs were advised to rule out impacted and supernumerary teeth. OPG showed multiple impacted permanent and multiple supernumerary teeth adjacent to premolars were present. 36 and 46 were having thin elongated roots. OPG revealed anterior and posterior border of ramus parallel with elongated coronoid process [Figure 10]. Chest radiograph showed bilateral hypoplastic clavicle and narrow angulated ribs [Figure 12]. PNS and PA skull view revealed open frontal suture and prominent parietal bossing [Figure 11]. Clinical and radiologic findings were suggestive of CCD. On further examination, we came to know that patient's elder brother was also having same problem. On questioning, it was revealed that their father also presented with same features.

25 year old brother presented with clinical manifestations of hypertelorism, depressed nasal bridge, prominent frontal bossing, prognathism with mild maxillary hypoplasia [Figure 8]. He was able to approximate shoulders in front of chest. Intraorally multiple retained deciduous teeth with multiple missing permanent teeth was present. Radiographs revealed multiple impacted teeth and multiple supernumerary teeth in premolar region. PNS view showed open anterior fontanel and open frontal suture. Chest radiograph revealed hypoplastic clavicle and narrow oblique ribs. Correlating clinical and radiographic findings diagnosis of cleidocranial dysplasia was given.


   Discussion Top


Cleidocranial dysplasia is also known as cleidocranial dysostosis/mutational dysostosis/Sheuthauer -Marie Sainton Syndrome (1). Over 600 cases of CCD have been described in the medical literature from the time of Martin and Mecker. Sheuthauer, whose name is seldom associated with the syndrome, described it quite accurately in 1871. Marie and Sainton in 1897 independently, described the combination of aplasia or hypoplasia of one or both clavicles, exaggerated development of the cranium, and hereditary transmission. They coined the name 'Cleidocranial Dysostosis.' [3],[4] It is a rare condition that is often inherited from a parent in an autosomal dominant manner. This means that, if one of the parents has the disorder there are 50:50 chance of each child inheriting this rare condition. Boys and girls stand an equal chance of getting affected, but as many as 40% of cases appear to represent spontaneous mutations. Several chromosome abnormalities have been reported to be associated with this syndrome, including rearrangement of long arm of chromosome 8 (8q22) and the long arm of chromosome 6. Mutations in the core binding factor alpha -1 (CBFA-1) gene, located on chromosome 6p21, have been shown to be the cause of CCD. This gene normally guides osteoblastic differentiation and appropriate bone formation. CBFA -1 also called as RUNX2 - Runt related transcription factor 2 gene, is expressed specifically in chondrocyte and osteoblast progenitors, as well as in mature osteoblasts. CBFA1 regulates the expression of several important osteoblast proteins including osterix (another transcription factor needed for osteoblast maturation), osteopontin, bone sialoprotein, type I collagen, osteocalcin and receptor activator of NF kb ligand. Hence it is a genetic defect with a generalized abnormal formation (dysplasia) of bony and dental tissue which can be detected at birth. [5]

Skeletal and dental features showed significant differences, depending on whether the Runt domain was impaired and in more quantitative terms, on how much residual transactivation potential remained in mutant RUNX2 proteins. The RUNX2 activity in heterozygously affected cells relative to the normal level would be reduced by approximately one fourth in Runt domain intact group and by approximately one half in the Runt domain impaired group. This means that the skeletal growth and the dental development could readily and proportionally be affected by such fractional changes in the RUNX2 activity. [6]

Clinical and radiographic features

Brachycephaly, failure or delayed closing of the fontanelles and sutures, the sagittal suture is often sunken deep within the skull, giving it a flat appearance. Bossing of the frontal, parietal and occipital areas. High arched palate, midfacial hypoplasia with low nasal bridge, hypertelorism, mandibular prognathism, agenesis or small paranasal sinuses and underdeveloped zygomatic bone. Parallel ascending ramus of mandible with elongated coronoid process and deep sigmoid notch. Usually of short stature, with the average adult height being 156 cm for males and 145 cm for females. Increased bone fragility.

Unilateral or bilateral partial or complete aplasia of the clavicles. Small thorax with short oblique ribs. [7]

Dental features

Maleruption, absent or delayed eruption of deciduous and permanent teeth.

Supernumerary dentition (usually in the premolar area), retention cysts, enhanced caries, abnormally retained primary teeth, ectopic position of teeth .Enamel hypoplasia, variable size and shape of erupted teeth. Rushton reported that there is absence or paucity of cellular cementum on the roots of permanent teeth with no increased thickening of the primary acellular cementum. The manner of anchorage of periodontal fibers and the maintenance of periodontal ligament width are not understood in this disease. Follicular cysts have also been found around unerupted teeth. Formation of primary teeth was found to be normal. The frequency of supernumerary teeth ranged from 22% in the maxillary incisor region to 5% in the molar regions. 70% supernumerary teeth were formed lingually and occlusally to the normal teeth. Maturation of the primary dentition was found to be normal, while permanent teeth were delayed from 1 to 4 years. Dental cysts were found in 12% of cases and deep bite in 66% of cases. It was hypothesized that the dental lamina for both the primary and permanent dentition is normal, but it does not resolve completely and therefore may form supernumerary teeth. Abnormalities of tooth morphology may be related to inadequate space and arrested eruption of teeth. The failure of primary teeth to exfoliate and of permanent teeth to erupt has been suggested to be caused by a defective resorption or remodeling of bone and normal teeth. [8]

Differential diagnosis

Pycnodysostosis or the Marteaux Lamy syndrome presents identical features as cleidocranial dysplasia. However, Marteaux Lamy Syndrome is differentiated by presence of dwarfism. Additionally, patients affected by the syndrome have dense and fragile bones.

Mandibuloacral dysplasia (MAD) is a progressive disorder characterized by short stature, delayed closure of cranial sutures, mandibular hypoplasia, and dysplastic clavicles. The scalp hair becomes sparse by the third decade and some individuals develop alopecia. The joints become progressively stiff; radiographs reveal acroosteodysplasia of the fingers and toes, with delayed ossification of the carpal bones. Osteolysis of the mandibular body and ramus results in micrognathia. In adolescence, dental crowding is observed; hypoplastic roots lead to early tooth loss. MAD is associated with mutations in the genes LMNA or ZMPSTE24 . Inheritance is autosomal recessive. [9]

Management

The treatment plan is largely dependent on both the chronological and dental ages of the patient. The timing of diagnosis is not only important in choosing an appropriate treatment plan but also in attaining a successful result. Patient leads a normal life span. Treatment is mainly supportive with no treatment of underlying disorder. Multidisciplinary approach should be planned by dental, pediatrics, orthopedics and genetic counseling team. Dental treatment requires an interdisciplinary approach involving orthodontics, maxillofacial surgeon and prosthodontists. In the past, a number of attempts at treatment have been made, ranging from total extraction of retained teeth to surgical exposure and orthodontic extrusion of unerupted teeth and autotransplantation of the embedded teeth. Lately, more elaborate treatment strategies have been developed. There is very little information about the effects of various treatment approaches.

Multiple surgical exposures of unerupted teeth and orthodontic treatment to establish an intact and aligned dental arch. Following this, at skeletal maturity, the underlying skeletal deformity correction is done by maxillary Lefort I osteotomy. Therapeutic options include extraction of all teeth followed by the fabrication of dentures or a crown sleeve coping over denture, autotransplantation of selected impacted teeth followed by prosthetic restoration. Endosseous implants are given to restore the mandibular and maxillary arch with fixed prosthesis for edentulous patients. [10],[11],[12]

 
   References Top

1.Rajendran R. Chapter 17. Diseases of Bone and Joints. 5th ed. p. 994   Back to cited text no. 1    
2.Al Kaissi A, Chehida FB, Safi H, Ben M. Massive spinal-ischial dysplasia and extensive spinal dyssygmentation in a Tunisian child with severe form of Cleido-cranial dysplasia. Afr J Biomed Res 2005;8:127-9.  Back to cited text no. 2    
3.Terry RJ. Rudimentary clavicles and other abnormalities of the skeleton of a white woman. J Anat Physiol 1899;33:413-22.  Back to cited text no. 3  [PUBMED]  [FULLTEXT]
4.Marie P, Sainton P. observation d'hydrocephale hereditairepar vice de development du crane et du cerveau. Bull Mem Soc Med Hop Paris 1897;14:706-12.   Back to cited text no. 4    
5.Brighurst FR, Denay MB, Krane SM, Henry MM. Harrison's Principles of Internal Medicine. 16 th ed.   Back to cited text no. 5    
6.Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y, et al . Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Am J Hum Genet 2002;71:724-38.  Back to cited text no. 6    
7.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. 7    
8.Andreasen JO, Petersen J, Daniel M. Laskin Textbook and Color Atlas of tooth impaction, Chapter 13, Tooth eruption disturbancesin Genetic disorders and endocrine diseases.  Back to cited text no. 8    
9.Cleidocranial dysplasia, Gene Reviews. Seattle: University of Washington; 2006.  Back to cited text no. 9    
10.Daskalogiannakis J, Piedade L, Lindholm TC, Sαndor GK, Carmichael RP. Cleidocranial dysplasia: 2 generations of management. J Can Dent Assoc 2006;72:337-42.   Back to cited text no. 10    
11.Weintraub GS, Yalisove IL. Prosthodontic therapy for cleidocranial dysostosis: Report of case. J Am Dent Assoc 1978;96:301-5.  Back to cited text no. 11    
12.Jensen BL, Kreiberg S. Dental treatment strategies in Cleidocranial Dysplasia, Br Dent J 1992;172:243-7.  Back to cited text no. 12    


    Figures

  [Figure 1a], [Figure 1b], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12]



 

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