Cleidocranial Dysostosis: A Case Report

Cleber Silva* ; Steven DiRienzo, BS**; Neill Serman, DDS***

ABSTRACT
The findings of cleidocranial dysostosis are reviewed. A case is presented where the clinical appearance of the patient should have made the clinician immediately aware of the possibility of the condition before performing an intraoral or radiographic examination. (Col Dent Rev 2:26, 1997)

INTRODUCTION

Cleidocranial dysostosis, CCD, is a rare developmental defect of autosomal dominant inheritance1,2, which has been mapped to a microdeletion of chromosome band 6p214, t(6;18) (p12;q24) translocation12 and pericentric inversion of chromosome 6.13 It is also known as Marie and Sainton disease, mutational dysostosis, craniocleido dysostosis and cleidocranial dysplasia.11 It presents with skeletal defects of several bones, the most striking of which is partial or complete absence of clavicles (Figure 1)1,3 and late closure of the fontanelles (which is also found in Basal Cell Nevus Syndrome and Crouzon Syndrome) resulting in frontal bossing. 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.11

CASE REPORT

A case is presented to show the importance of thorough observation of each patient's general appearance. A young mother in her late twenties (Figure 2) brought her asymptomatic, 12 year old daughter (Figure 3) into the dental clinic "for dental treatment". On intraoral examination, it was noted that the child had more primary teeth present than one would expect at this age, but not much thought was given to this finding at the initial examination (Figure 4). It was decided that panoramic and bitewing radiographs were required to evaluate the child's dentition.
On evaluating the panoramic radiograph, the classical signs of CCD with many unerupted and supernumerary teeth was immediately recognized. The clinicians involved with the examination re-examined the child and found that she had the classical symptoms of frontal bossing and hypertelorism (Figure 2) that should have been recognized immediately when the patient originally presented. The child was asked to attempt to place her shoulders adjacent to each other to check for incomplete clavicle formation; and she was able to easily perform this procedure.

Figure 1: Chest radiograph of cleidocranial dysostosis
patient demonstrating partial absence of clavicles.

The mother was not surprised that her daughter could do this. In fact, the mother immediately put her shoulders together with no effort. It was then noted that the mother also had frontal bossing and hypertelorism. The mother was not aware that she was in any way different anatomically from everyone else. She thought it was natural to be able to perform this movement and did not think anything of the fact that her daughter was also able to move her shoulders in the same way. No one had ever mentioned to the mother that the majority of people were unable to perform this movement.

Figure 2: Oblique facial view Figure 3: Facial view of a 12 year old
showing frontal bosselation of the cleidocranial dysostosis patient
mother of a cleidocranial demonstrating complete, uninhibited
dysostosis patient. adduction of shoulders.

Figure 4: Facial view of dentition of cleidocranial dysostosis
patient presenting prolonged retention of deciduous teeth.

DISCUSSION

One of the most presumptive clinical findings of cleidocranial dysostosis is mobility of the shoulders.11 Due to partial or complete absence of the clavicles, the shoulders can be brought forward to close proximity to the chest (Figure 3).11

Bosselation is present owing to failed closure of the metopic suture and anterior fontanel (Figure 5).1,8 Hypertelorism is a common finding.8 The maxilla and paranasal sinuses present as being underdeveloped.5,7 The mandible may present with prognathism due to increased mandibular length.15 The foramen magnum may be facing anteriorly in some cases.6,8

Figure 5: Anteroposterior radiographic
film of cleidocranial dysostosis patient,
demonstrating delayed closure of the
anterior fontanelles.

Dental findings are characterized by decreased eruptive force of both primary and permanent dentitions, prolonged retention of primary teeth2 and an increase in odontogenesis leading to an excessive number of supernumerary teeth.14 A study by Yamamoto, Sakae and Davies using a light electron microscope together with crystallographic technique to evaluate a patient who was found to have unerupted teeth, showed a lack of cellular cementum on both normal and supernumerary teeth18 and acellular cementum that was partially hyperplastic.10 Thus, Yamamoto, Sakae and Davies concluded that cellular cementum may have no influence on eruption of teeth. Furthermore, it has been shown by Yamamoto, Sakae and Davies that early loss of the gubernacular cord results in failure of a tooth to erupt. The unerupted teeth showed deformities in the roots and crowns when inadequate absorption of bone in response to the pressure of growing teeth occurred.18

A study by Rushton has suggested a lack of localized remodeling of bone. There is a predisposition to develop numerous supernumerary teeth in the mandibular premolar and maxillary anterior regions.9 Other than delayed, the permanent molars generally erupt without incident.1,5,11 Removal of primary or supernumerary teeth does not promote eruption of unerupted permanent teeth.11 Supernumerary teeth are rare in the molar regions.11

Other clinical findings include: defects of the vertebral column leading to postural inadequacy; defects of the pelvis limiting hip movement; spina bifida occulta; changes of long bones of the limbs resulting in genu valgum, luxatio capituli radii and complete absence of the radius or fibula. Due to partial or complete absence of the clavicles (Figure 1), anomalies of the muscles normally attached to the clavicles should be expected.11

The clinical findings of CCD, although present at birth, are often either missed or diagnosed at a much later date, as was the case with this mother and daughter. Some cases are diagnosed through incidental findings by physicians treating patients for unrelated symptoms or conditions. In the case presented in this article, the condition had not been previously diagnosed in the mother.

The radiographic evaluation of patients is the most important and reliable means to confirm the diagnosis. Since CCD is a developmental defect of bone, one should expect to find relevant signs on radiological examination including absent or partially developed clavicles (usually presenting as small fragments).11

The radiological findings of craniofacial defects are pathognomic for the condition: broad sutures, large fontanelles persisting into adulthood, numerous wormian bones, 1,11 numerous unerupted and/or supernumerary teeth.11 Cervical or thoracic vertebrae clefts, supernumerary ribs, thoracic and lumbar scoliosis, kyphosis or lordosis, pelvic bony anomalies, long bones of the limbs, anomalies of phalangeal, tarsal, metatarsal, carpal and metacarpal bones are all systemic findings.11

A study9 was performed on a patient pool of 22 white subjects with CCD aged 3.5 to 34 years. The primary dentition in patients with CCD showed no variation from normal patients without CCD in their formation, maturation or eruption. The formation of the permanent dentition in patients with CCD showed the development of supernumerary teeth in 22 of 23 patients.9 The incisor region of the maxilla showed the highest frequency of supernumerary teeth: 22%. Supernumerary central incisors in the maxilla were found 10 times more frequently than lateral incisors. Supernumerary molars in both the maxilla and mandible showed a frequency of formation of 5%.9 Maturation of the permanent dentition was delayed about 1-4 years in the 7 to 23 age group.9,17 in relation to normal teeth. It has been shown that if the dental lamina fails to resorb completely, supernumerary teeth may form.9 All of the patients in this study9 showed major problems in the eruption of the permanent dentition. This can be explained by diminished primary root resorption, multiple supernumerary teeth and decreased bone resorption.9

The suggested treatment for dental complications of cleidocranial dysostosis is:

1. the fabrication of dentures over the unerupted teeth(;
2. teeth should be removed as they erupt, for very little bone structure would be left if the supernumerary, impacted and unerupted teeth were all extracted at once(.

(Columbia University School of Dental and Oral Surgery, Department of
Prosthodontics Guidelines to treatment of Cleidocranial Dysostosis.

CONCLUSION

The findings of CCD are reviewed and a case is presented where the clinical appearance of the patient should have immediately made the clinicians aware of the possibility of the condition before performing an intraoral or radiographic examination.

REFERENCES

1. Brueton LA, Reeve A, Ellis R, Husband P, Thompson EM, Kingston HM (1992 Jun) Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. American Journal of Medical Genetics 43(3): 612-8.
2. Dard M (1993 Jul-Sep) Histology of alveolar bone and primary tooth roots in a case of cleidocranial dysplasia. Bulletin du Groupement International Pour La Recherche Scientifique En Stomatologie Et Odontologie 36(3-4): 101-7.
3. De Nguyen T, Turcotte JY (1994) Cleidocranial dysplasia: review of literature and presentation of a case. Journal Canadian Dental Association 60(12): 1073-8.
4. Gelb BD, Cooper E, Shivell M, Desnick RJ (1995) Genetic mapping of cledicoranial dysplasia locus on chromosome band 6 and 6p21 to include microdeletion. American Journal of Medical Genetics 58(2): 200-5.
5. Hitchin AD, Fairley JM (1974) Dental management in cleidocranial dysostosis. British Journal of Oral Surgery 12: 46-55.
6. Jensen BL (1994) Cleidocranial dysplasia: craniofacial morphology in adult patients. Journal of Craniofacial Genetics and Developmental Biology 14(3): 163-76.
7. Jensen BL, Kreiborg S (1995) Craniofacial growth in cleidocranial dysplasia - a roentgencephalometric study. Journal of Craniofacial Genetics and Developmental Biology 15(1): 35-43.
8. Jensen BL, Kreiborg S (1993 Apr-Jun) Craniofacial abnormalities in 52 school-age and adult patients with cleidocranial dysostosis. Journal of Craniofacial Genetics and Developmental Biology 13(2): 98-108.
9. Jensen BL, Kreiborg, S (1990) Development of the dentition in cleidocranial dysplasia. Journal of Oral Pathology and Medicine 19:89-93.
10. Jensen BL, Lukinmaa PL, Thesleff I, Andreasen JO, Kreiborg S (1995) Histological observations of teeth and periodontal tissues in cleidocranial dysplasia. Journal of Craniofacial Genetics and Developmental Biology 15(4): 212-21.
11. Kalliala E, Taskinen PJ (1962) Cleidocranial dysostosis: report of six typical cases and one atypical case. Oral Surgery, Oral Medicine, Oral Pathology 15:808.
12. Narahora K, Tsuji K, Yokoyama Y, Seino Y (1993) Cleidocranial dysplasia associated with a t(6;18) (p12;q24) translocation. American Journal of Medical Genetics 56(1): 119-20.
13. Nienhaus H, Mau U, Zang KD, Henn W (1995 Mar) Pericentric inversion of chromosome 6 in a patient with cleidocranial dysostosis. American Journal of Medical Genetics 46(6): 630-1.
14. Quinn PD, Lewis J, Levin LM (1992 May-Jun) Surgical management of a patient with cleidocranial dysplasia: a case report. Special Care in Dentistry 12(3): 131-3.
15. Richardson A, Deussen FF (1994) Facial and dental anomalies in cleidocranial dysplasia: a study of 17 cases. International Journal of Pediatric Dentistry 4(4): 225-31.
16. Rushton, MA (1937) The failure of eruption in cleido-cranial dysostosis. British Dental Journal 63:641.
17. Seow WK, Hertzberg J (1995) Dental development and molar root length in children with cleidocranial dysostosis. Pediatric Dentistry 17(2): 101-5.
18. Yamamoto H, Sakae T, Davies JE (1989) Cleidocranial dysplasia: A light microscope, electron microscope, and crystallographic study. Oral Surgery,Oral Medicine, Oral Pathology 68: 195-200.