Journal of Indian Academy of Oral Medicine and Radiology

CASE REPORT
Year
: 2017  |  Volume : 29  |  Issue : 3  |  Page : 231--234

Clinical and radiological spectrum of cleidocranial dysplasia: A rare case report


Sneha H Choudhary1, Lata M Kale2, Sunil S Mishra3, Nilofar S Zaidi2,  
1 Department of Oral Medicine and Radiology, Kusum Devi Sunderlal Dugar Jain Dental College and Hospital, Kolkata, West Bengal, India
2 Department of Oral Medicine and Radiology, Chhatrapati Shahu Maharaj Shikshan Sanstha Dental College and Hospital, Aurangabad, Maharashtra, India
3 Department of Oral Medicine and Radiology, Rural Dental College, Loni, Maharashtra, India

Correspondence Address:
Sneha H Choudhary
Department of Oral Medicine and Radiology, Kusum Devi Sunderlal Dugar Jain Dental College And Hospital, Kolkata, West Bengal
India

Abstract

Cleidocranial dysplasia (CCD) is a rare congenital disorder which affects the bones and teeth. CCD usually has an autosomal dominant inheritance pattern, however, it may appear spontaneously in some cases. The most common features seen in CCD are aplastic or hypoplastic clavicles, late closure of fontanelle, open skull sutures, delayed exfoliation of deciduous teeth, delayed or failed eruption of permanent teeth, and supernumerary teeth. Here, we report a case of CCD in a 17-year-old female without any family history who presented with the complaint of missing teeth.



How to cite this article:
Choudhary SH, Kale LM, Mishra SS, Zaidi NS. Clinical and radiological spectrum of cleidocranial dysplasia: A rare case report.J Indian Acad Oral Med Radiol 2017;29:231-234


How to cite this URL:
Choudhary SH, Kale LM, Mishra SS, Zaidi NS. Clinical and radiological spectrum of cleidocranial dysplasia: A rare case report. J Indian Acad Oral Med Radiol [serial online] 2017 [cited 2022 Jan 26 ];29:231-234
Available from: https://www.jiaomr.in/text.asp?2017/29/3/231/218721


Full Text

 Introduction



Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease, with an incidence of 1:1,000,000.[1] CCD is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e., runt-related transcription factor 2(RUNX2).[2] The disease is characterized by aplastic or hypoplastic clavicles, persistently open anterior fontanelle and skull sutures, short stature, a wide pubic symphysis, dental abnormalities including delayed exfoliation of deciduous teeth, delayed or failed eruption of permanent teeth, presence of supernumerary teeth, and a variety of other skeletal changes.[2],[3] Here, we report a case of CCD in a 17-year-old female and emphasize the importance of clinical examination findings.

 Case Report



A 17-year-old female presented to the department of oral medicine and radiology with the chief complaint of missing teeth in her upper and lower front region of jaw and over-retained milk teeth. Patient gave history of exfoliation of one upper and one lower front tooth 2 years back, however, the permanent teeth did not erupt. Due to the missing teeth, she had an unpleasant smile that was resulting in psychological trauma. Patient and her parents were worried about her esthetics as she was approaching her marriage age, so she wanted to get her teeth corrected.

Physical examination of the patient revealed a short stature and absence of clavicular prominence [Figure 1] and [Figure 2]. Extraoral examination revealed a flat nasal bridge and hypertelorism [Figure 3]. The patient was then asked to move her shoulders anteriorly in an attempt to place her shoulders adjacent to each other to check for the absence of clavicle. This attempt demonstrated hypermobility of the shoulder girdle [Figure 4].{Figure 1}{Figure 2}{Figure 3}{Figure 4}

Intraoral examination revealed a complete set of over-retained deciduous dentition except 61 and 81 which exfoliated 2 years back [Figure 5]. Further, there was presence of three deciduous supernumerary teeth; two in the maxillary arch and one in the mandibular arch, which suggested that there were total 23 deciduous teeth present. All the permanent first and second molars were present, whereas all the permanent succedaneous teeth were missing. Tooth colored restoration was seen in right and left mandibular second deciduous molars (75 and 85). Distoproximal caries was present in mandibular left first deciduous molar (74). Root piece of maxillary right deciduous first molar (54) was seen. Palatally erupting maxillary left permanent central incisor (21) was seen [Figure 6]. A panoramic radiograph was advised for evaluating the status of patient's overall dentition.{Figure 5}{Figure 6}

Panoramic radiograph revealed the classical signs of cleidocranial dysplasia [Figure 7]. The patient had a total of approximately 58 teeth in her upper and lower jaws, of which 30 were erupted and 28 were unerupted (present within the jaw bones). There was presence of total 36 permanent teeth, among which all the first and second molars were erupted and rest were impacted within the jaw. Some of the unerupted teeth were mimicking a premolar in shape.{Figure 7}

Patient was also subjected to posteroanterior skull and posteroanterior chest radiographic examination to check for the presence of open skull sutures and absence of clavicle respectively. Posteroanterior skull radiograph showed open skull sutures and poorly developed paranasal sinuses and posteroanterior chest radiograph showed complete absence of clavicle [Figure 8] and [Figure 9].{Figure 8}{Figure 9}

On the basis of clinical and radiological examination, a diagnosis of CCD was confirmed. Patient was referred to the department of prosthodontics, orthodontics and oral surgery for further treatment. The patient was treated by performing serial extraction of the over-retained deciduous and supernumerary teeth followed by surgical exposure of permanent succedaneous teeth and orthodontically-guided eruption of the same.

 Discussion



CCD is a developmental disorder affecting skeleton as well as teeth. This condition may be inherited, transmitted as dominant characteristics in either of the sex, or sometimes may appear spontaneously.[1] In the present case, the disease has occurred spontaneously because there was no similar family history. CCD can be diagnosed by prenatal ultrasonography, however, it is most often detected later in life due to dental problems or other not related to medical pathologies.[4] The gene responsible for the disease has been mapped to chromosome6p21 within a region containing CBFA1, which is a member of the runt family of transcription factors. Mutations in the CBFA1 gene that presumably lead to synthesis of an inactive gene product have been identified in patients with CCD.[3] CCD is characterized by aplasia or hypoplasia of clavicles, persistently open fontanelle and skull sutures, short stature, a wide pubic symphysis, dental abnormalities including over-retained or delayed exfoliation of deciduous teeth, delayed or failed eruption of permanent teeth, presence of supernumerary teeth, and a variety of other skeletal changes.[5] In the present case, most of the features of CCD were present including absence of clavicles, open skull sutures, short stature, over-retained deciduous teeth, delayed exfoliation of two anterior deciduous teeth, delayed eruption of permanent teeth and presence of supernumerary teeth in both deciduous as well as permanent dentition. One of the most important clinical findings of CCD is hypermobility of the shoulders which occurs due to partial or complete absence of the clavicles.[1] Similar feature was also observed in the present case. Hypertelorism [6] is also a common finding in patients with CCD, which was seen in the present case as well. The paranasal sinuses present are usually underdeveloped,[7] as was seen in the present case. In general, the permanent molars erupt on their own, whereas removal of primary or supernumerary teeth does not usually promote eruption of unerupted permanent teeth.[1] Similarly, in the present case, exfoliation of deciduous teeth was not followed by the eruption of their permanent successors.

The radiographic findings of CCD are pathognomic, and hence, are the most important and reliable means to confirm the diagnosis. These include broad open skull sutures, large fontanels persisting into adulthood, numerous wormian bones, aplasia or hypoplasia of clavicles and numerous unerupted permanent and supernumerary teeth.[1] In the present case, radiographic examination revealed absence of clavicles, open skull sutures, unerupted permanent succedaneous, and supernumerary teeth.

The successful treatment of patients with CCD requires a compliant patient and an interdisciplinary team approach involving orthodontics, maxillofacial surgery, and prosthodontics is obligatory. Genetic counseling for family planning should be advised. A good collaboration between the specialists, patient, and patient's family is required for an organized treatment approach. The main goal of the treatment is to establish the functional occlusion and an esthetic appearance. Sometimes proper motivation and support is needed for the patients since this disorder causes psychological problems in some patients.[8]

 Conclusion



Although the clinical findings of CCD are present at birth, diagnosis of the disease is often either missed or diagnosed at a much later age. Some cases are diagnosed through incidental findings by physicians, treating patients for some other conditions, or by dental surgeons in an attempt to search for the reason of over-retained teeth or missing permanent teeth. CCD can be identified either by family history, excessive mobility of shoulders, or by its unique dental findings, which can later be confirmed by radiographic examinations.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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