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 Table of Contents  
ORIGINAL ARTICLE
Year : 2015  |  Volume : 3  |  Issue : 2  |  Page : 58-62

Cleidocranial dysplasia: Spectrum of clinical and radiological findings in seven cases


Department of Oral Medicine and Radiology, Maulana Azad Institute of Dental Sciences, New Delhi, India

Date of Web Publication22-May-2015

Correspondence Address:
Dr. Shikha Gupta
Department of Oral Medicine and Radiology, Maulana Azad Institute of Dental Sciences, New Delhi - 110 002
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2321-3841.157525

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  Abstract 

Introduction: Cleidocranial dysplasia (CCD) is an autosomal dominant disorder primarily affecting bones, which undergo membranous ossification. It commonly presents with significant dental and facial problems, including the hypoplastic maxilla, retained primary teeth, unerupted permanent teeth and supernumerary teeth. It is usually diagnosed based on clinical and radiographic findings, which are pathognomic. Here, we report clinical and radiographic findings of 7 patients with CCD who reported to our Institute during 2013-2014. Results: Age of patient ranged from 13 to 55 years, out of which 5 were males and 2 were females. Characteristic clinical findings, which were present in all cases include frontal and parietal bossing, brachycephalic skull, hypertelorism, broad nasal bridge and shoulder hypermobility. Radiographic findings seen were hypoplasia/aplasia of the clavicle, open skull suture, wide, open fontanel, and the presence of impacted permanent and supernumerary teeth. In one case, there was follicular cyst associated with impacted mandibular canine. Conclusion: Successful treatment involves a multidisciplinary approach and involves timely diagnosis at an early stage of development

Keywords: Cleidocranial, dysostosis, dysplasia, Marie-Sainton


How to cite this article:
Gupta S, Gupta S, Singh K, Arora P, Goel S. Cleidocranial dysplasia: Spectrum of clinical and radiological findings in seven cases. J Oral Maxillofac Radiol 2015;3:58-62

How to cite this URL:
Gupta S, Gupta S, Singh K, Arora P, Goel S. Cleidocranial dysplasia: Spectrum of clinical and radiological findings in seven cases. J Oral Maxillofac Radiol [serial online] 2015 [cited 2019 Aug 23];3:58-62. Available from: http://www.joomr.org/text.asp?2015/3/2/58/157525


  Introduction Top


Cleidocranial dysplasia (CCD), also known as Marie and Sainton disease, Scheuthauer  Marie-Sainton syndrome More Details and mutational dysostosis, is a rare developmental defect of autosomal dominant inheritance. [1],[2] It affects 1/million individuals worldwide with no predilection for gender or ethnic group. [3] CCD is a bone disorder caused by a defect in CBF1 gene on chromosome 6p21, which controls osteoblastic differentiation and appropriate bone formation. [4],[5]

It primarily affects bones, which undergo intramembranous ossification. [6] The most pathognomic and characteristic feature of this disorder is hypoplasia or aplasia of clavicles, which results in hypermobility of shoulders allowing the patients to approximate the shoulders in the midline. [1],[7],[8] Delayed ossification of cranial sutures and fontanels occur and may remain open throughout life. [3] Characteristic facial features may include wide, short skull (brachycephaly), prominent forehead, wide-set eyes (hypertelorism) and flat nose. [1],[9]

There is hypoplastic maxilla, lacrimal, nasal and zygomatic bones with frontal and parietal bossing. Maxillary sinuses may be small or missing with the underdeveloped maxilla and depressed nasal bridge leading to relative mandibular prognathism. [2] About 94% patients have dental abnormalities, which include delayed loss of primary teeth, delayed eruption of permanent teeth, and supernumerary teeth, sometimes accompanied by follicular cysts. [3]

Cleidocranial dysplasia can be diagnosed by clinical and radiological examination of the face, cranium, and clavicles. Radiological findings of CCD are pathognomic, that is, broad sutures, large fontanels persisting into adulthood, numerous wormian bones and numerous unerupted, and supernumerary teeth.

The aim of this paper is to report clinical and radiological findings in seven cases of CCD.


  Materials and Methods Top


We included seven cases of CCD who reported to the Department of Oral Medicine and Radiology during 2013-2014. Demographic data including age, sex was recorded. Based on clinical examination, following findings were recorded:

  1. Facial features-frontal and parietal bossing, hypertelorism, broad nasal bridge, underdeveloped maxilla and zygomatic bone, mandibular prognathism.
  2. Shape of the skull.
  3. Intraoral findings-retained primary teeth, missing permanent teeth, malocclusion, supernumerary teeth, any cleft of the palate.
  4. Shoulder hypermobility-patient was asked to approximate shoulders in front of the chest.
  5. Finger and toe abnormalities.


All the patients were advised posteroanterior skull radiograph, lateral skull view, orthopantomograph, and posteroanterior chest view. Following findings were recorded from these radiographs:

  1. Aplasia/hypoplasia of clavicle.
  2. Open sutures.
  3. Wide, open fontanel.
  4. Impacted permanent teeth, supernumerary teeth and follicular cyst if any.



  Results Top


Clinical findings

Clinical findings for all cases are tabulated in [Table 1]. The age of the patients ranged from 13 to 55 years with a mean age of years. Of seven cases, 2 were female, and 5 were male with a male to female ratio of 2.5:1. All patients reported with the chief complaint of retained primary teeth and missing permanent teeth.
Table 1: Clinical findings of all cases


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Depressed malar process and relative mandibular prognathism were seen in all the cases [Figure 1]. All patients had broad and short skull, but with the exception of case 3, frontal and parietal bossing was seen in all the cases. Except for case 4, hypertelorism, and depressed nasal bridge was also seen in all the cases. Toe abnormalities were present only in one case, which showed short fourth and fifth digit [Figure 2].
Figure 1: Clinical photograph (lateral profile) of the cases showing depressed malar processes and relative mandibular prognathism


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Figure 2: Shortened fourth and fifth digit of toe in case 6


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Shoulder hypermobility was complete in case 5 and 7 [Figure 3], partial in case 1, 2, 3 and 4 [Figure 4], whereas no mobility was seen in case 6. With the exception of case 6, retained primary teeth were seen clinically in all cases with number of teeth ranging from 2 to 12 [Figure 5]. None of the cases had full complement of erupted permanent teeth with number of erupted permanent teeth ranging from 8 to 25. In almost all cases, erupted permanent teeth included maxillary and mandibular central incisors, first and second molar. Retained primary teeth included maxillary and mandibular canine, first and second molar.
Figure 3: Shoulder hypermobility seen as approximation of shoulders in front of chest in case 5


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Figure 4: Partial shoulder hypermobility seen in cases


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Figure 5: Intraoral photograph of the cases showing retained deciduous teeth and missing permanent teeth


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Radiographic findings

Radiographic findings of all cases are presented in [Table 2]. On PA and lateral skull view, open skull sutures and wide, open fontanels were seen in all cases [Figure 6] except for case 3. On radiograph of chest, clavicle was present on both sides in case 6, whereas complete clavicular aplasia was seen in case 5 and 7 [Figure 7] and hypoplasia of clavicle was seen in case 1, 2, 3 and 4 [Figure 8].
Figure 6: Postero-anterior skull radiographs of cases showing open skull suture and fontanel (black arrow)


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Figure 7: Postero-anterior chest radiograph showing complete absence of clavicles in case 5 and 7


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Figure 8: Postero-anterior chest radiograph of cases showing hypoplasia of clavicle (black arrow)


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Table 2: Radiographic findings of all cases


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On orthopantomograph, retained primary teeth, unerputed and impacted permanent teeth and supernumerary teeth were seen. Total number of teeth present ranged from 22 to 46. With the exception of case 5 and 6, impacted supernumerary teeth were seen in all cases, and the number ranged from 1 to 4. Most of the supernumerary teeth had a resemblance to premolar teeth [Figure 9]. There was evidence of a follicular cyst seen in relation to impacted left mandibular canine, first and second premolar in case 2 [Figure 10]. In most of the cases, unerupted and impacted permanent teeth included maxillary and mandibular canine, first and second premolar and third molar.
Figure 9: Orthopantomograph of cases showing retained primary teeth, impacted and unerupted permanent teeth and impacted supernumerary teeth resembling premolar (black arrow)


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Figure 10: Orthopantomograph of case 2 showing follicular cyst associated with impacted left mandibular canine, first and second premolar (black arrow)


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  Discussion Top


Cleidocranial dysplasia primarily affects the bones, which undergo intramembranous ossification, especially skull, clavicles and flat bones, hence termed cleidocranial. The clavicle is the first bone to ossify and exhibits many deformities ranging from varied degrees of hypoplasia to complete absence of clavicles. Complete absence of clavicles, seen in 10% cases results in hypermobility and drooping of shoulders. [1],[7],[9] Chest X-ray in our cases showed hypoplasia of clavicle in four cases, and complete absence was seen in two cases with shoulder hypermobility.

The dental abnormality is one of the main features of CCD and includes failure of eruption of permanent teeth, retained primary teeth and multiple supernumerary teeth. [5] Supernumerary teeth are localized in both jaws, especially in areas of premolars. [5],[10] In this series, retained primary teeth, unerupted permanent teeth and supernumerary teeth were seen in all our cases. Supernumerary teeth were localized to the area of premolars as is stated in the literature. There is an ectopic eruption of permanent teeth and formation of cyst associated with impacted teeth. [5],[11] Follicular cyst was seen in association with impacted mandibular canine and premolar in one case in this series. The cause of unerupted teeth in CCD is said to be due to:

  1. Disturbance in bone resorption.
  2. Lack of cellular cementum or.
  3. Lack of union between dental follicle and mucosa due to interposed fibrous tissue which acts as a barrier to eruption.


Other findings include short stature, bell-shaped thorax, hypertelorism, hypoplasia of pelvis, frontal and parietal bossing, and phalangeal abnormalities. Shortened or absent nasal bones, paranasal sinus abnormalities, small maxilla and delayed union of mandibular symphysis are less common findings of CCD. Nearly all our cases showed frontal and parietal bossing, hypertelorism, broad nasal bridge whereas phalangeal abnormalities were seen in only one case.

A radiograph is the most important means by which diagnosis of CCD can be confirmed. [5],[11] Chest radiograph of the patient shows hypoplastic or aplastic clavicles. Radiograph of the skull is pathognomic of the disease. Skull shows diffuse areas of rarefaction with most ossification in the frontal bones. Cranial sutures are broad, and fontanels are large and persist into adulthood. Individual bones of the head show evidence of accessory centers of ossification, which gives the appearance of large number of wormian bones. [5],[12] All these findings were present in skull radiographs of our patients.

Treatment planning is related to the age of the patient. Current treatment involves a combination of orthodontics and maxillofacial surgery with the timely extraction of deciduous teeth, surgical removal of supernumerary teeth, exposure of selected permanent teeth and orthodontic forced eruption and fabrication of partial denture. [5],[13]


  Conclusion Top


Diagnosis of CCD is based mainly on clinical and radiographic findings. Well-functioning permanent dentition and esthetic facial appearance can be achieved with multidisciplinary approach if diagnosed well in time during early stages of childhood development.

 
  References Top

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González López BS, Ortiz Solalinde C, Kubodera Ito T, Lara Carrillo E, Ortiz Solalinde E. Cleido cranial dysplasia: Report of a family. J Oral Sci 2004;46:259-66.  Back to cited text no. 8
    
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Yamamoto H, Sakae T, Davies JE. Cleidocranial dysplasia: A light microscope, electron microscope, and crystallographic study. Oral Surg Oral Med Oral Pathol 1989;68:195-200.  Back to cited text no. 10
    
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Koch PE, Hammer WB. Cleidocranial dysostosis: Review of the literature and report of case. J Oral Surg 1978;36:39-42.  Back to cited text no. 11
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Gombra V, Jayachandran S. Cleidocranial dysplasia: Report of 4 cases & review. J Indian Acad Oral Med Radiol 2008;20:23-7.  Back to cited text no. 12
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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. 13
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10]
 
 
    Tables

  [Table 1], [Table 2]



 

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