Authors:Dr Saransh Malot.(Tutor), Dr Saurabh Jain (Sr. lecturar) DEPT OF ORAL &MAXILLOFACIAL SURGERY, AHMEDABAD DENTAL COLLEGE AND HOSPITAL, BHADAJ- RANCHHODPURA ROAD, SANTEJ, NEAR SCIENSE CITY

A 70 year old male patient came with the chief complain of replacement of missing teeth since 10 years. Patient also gives history of gradual exfoliation of teeth since last 15-20 years. Patient presented with short stature and abnormal head shape. On general examination it was found that patient height was 152 cm , thin weak and was malnourished as shown in fig.1. Frontal bossing was evident, brachycephaly, hypertelorism and slopping of shoulders were also seen as fig.2. He had hyper mobility of shoulders. Patient also confirmed presence of similar features in his family. Patient has left eye missing and patient also report about hearing and vision difficulty.

Radiographic examination was done by taking PA view skull fig 3, lateral view skull fig 4, PA view chest fig 5 was done. All typical of Cleido-Cranial Dysplasia were observed in x-ray.

Discussion

Cleidocranial dysplasia is also known as Marie and Sainton disease2, mutational dysostosis, cranio-cleido dysostosis and cleidocranial dysplasia. The disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, a member of the runt family of transcription factors. Mutations in the CBFA1 gene that presumably lead to synthesis of an inactive gene product were identified in patients with Cleidocranial dysostosis.

Frequency of Cleidocranial dysplasia is approximately 1 per million individuals worldwide.

One of the most presumptive clinical findings and most characteristic and pathogenic skeletal feature of cleidocranial dysostosis is mobility of the shoulders. Due to partial or complete absence of the clavicles, the shoulders can be brought forward to close proximity to the chest.

The main pathogenesis is the defective midline ossification which results in patent anterior fontanelle, metopic suture, wormian bones, cleft palate, hypoplastic or absence of clavicle.3

Bosselation is present owing to failed closure of the metopic suture and anterior fontanel .Hypertelorism is a common finding. The maxilla and Para-nasal sinuses present as being underdeveloped. The mandible may present with prognathism due to increased mandibular length. The foramen magnum may be facing anteriorly in some cases. 

Dental findings are characterized by decreased eruptive force of both primary and permanent dentitions, prolonged retention of primary teeth and an increase in odontogenesis leading to an excessive number of supernumerary teeth. The primary dentition appears late and secondary dentition is also delayed with mal-alignment of teeth and supernumerary teeth.

This disorder also has delayed mineralization of pubic bone, wide symphysis pubis, narrow pelvis, spondylosis, short stature, syringomelia or spina bifida occulta, kyphosis, scoliosis, lordosis, hypoplastic maxillary, lacrimal and zygomatic bones and vertebral synostosis.

The radiographic evaluation4 of patients is the most important and reliable means to confirm the diagnosis. Since Cleido cranial dysostosis 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) The radiological findings of craniofacial defects are pathognomic for the condition: broad sutures, large fontanelles persisting into adulthood, numerous wormian bones, numerous unerupted and/or supernumerary teeth. 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.

It is a relatively benign condition with normal intelligence and normal life expectancy.

The suggested treatment for dental complications of cleidocranial dysostosis is:

1. The fabrication of dentures over the unerupted teeth.
2. Teeth should be removed one by one 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)5

1. Conservative treatment is considered best for such patient reporting for prosthetic problems
2. Unerupted teeth should be left undisturbed unless cyst formation is observed (so regular follow up).
3. The embedded teeth serve a purpose in forming a well rounded ridge and possibly retarding bone resorption.6

References

1. Martin S. Sur Undepacement natural de la clavicle. J Med Chir Pharmacol 1765; 23: 456
2. Marie P, Sainton P. Sur La dysostose cleidocranienne hereditaire. Rev Neurol 1898; 6: 835
3. Cleidocranial Dysostosis: A Case Report (Cleber Silva* ; Steven DiRienzo, BS**; Neill Serman, DDS***)
4. T. Kumar Sathish, Julius Xavier Scott, Kanagalakshmi: Cleido-Cranial Dysplasia: A Case Report. The Internet Journal of Pediatrics and Neonatology. 2006. Volume 6 Number 1.
5. (Columbia University School of Dental and Oral Surgery, Department of
   Prosthodontics Guidelines to treatment of Cleidocranial Dysostosis
6. Cleidocranial dysostosis-A prosthodontic problem (Ellsworth Kelly, D.D.S.,* and Roy Y. Nakamoto, D.D.S., MS.** University of California School of Dentistry and Veterans Administration Hospital, San Francisco, Calif.)