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Cleidocranial Dysostosis: Report of Case from Saudi Population with New Radiographic Finding in Infraorbital Rim

Abdulaziz Saeed Alharbi*, Syed Saeed Ahmed

Department of Dentistry, Majmaah University, KSA

Abstract: Cleidocranial dysplasia (CCD) is a rare autosomal dominant genetic disorder which is characterized by its unique intraoral and extra features. Sometimes the disease occurs spontaneously. Here we describe a case of spontaneous occurrence from Saudi Arabia due to its extreme rarity in this continent.

Keywords: Cleidocranial dysplasia, frontal bossing, clavicle, brachycephaly, Runx2 Gene

Received June 18, 2018; Revised August 15, 2018; Accepted August 23, 2018

Citation: Abdulaziz Saeed Alharbi, Syed Saeed Ahmed, Cleidocranial Dysostosis: Report of Case from Saudi Population with New Radiographic Finding in Infraorbital Rim. American Journal of Medical Case Reports, 6 (8). 149-151. January 2018. doi:10.12691/ajmcr-6-8-1

1. Introduction

Cleidocranial dysplasia is a rare genetic disorder which manifests with wide variability. It is characterized hypo plastic or a plastic clavicles, short stature, by persistently open or delayed closure of the fontanel, and dental anomalies. [1,2,3,4] This may be associated with skeletal deformities. [5] Usually the dentists are the first to encounter these cases during the routine oral examination. It is important for dentists to fully understand the clinical manifestations and its variations. This case report is important that only one case from Saudi population has been reported. This may be due to genetic features among the Saudi population. Thus we are reporting this case due to its rarity in the Saudi population and add one more case for demographic purposes.

2. Case Report

A 36 year-old male attended to our hospital with the chief complaint of inability to chew food due to bad teeth. The history revealed that the whatever teeth were present, his many teeth were extracted due to different reasons and most of them were milk teeth and the last tooth was extracted last year only. His main problem was difficulty in chewing due to absence of teeth. Intraoral examination revealed poor oral hygiene, multiple carious and hypo plastic teeth, retained primary teeth, and absence of permanent teeth. The extra-oral examination showed hypertelorism, cranial bossing and he could be brought his closer together (Figure 1). On the basis of clinical findings the case was provisionally diagnosed as a case of Cleidocranial Dysplasia (CCD) which was later confirmed by radiographic examination. PA view of chest revealed partial absence of clavicle. (Figure 2). In the panoramic radiograph there were many impacted teeth but were palpable, many root stumps (Figure 3).

A rare finding in this case we deciphered in CT image (Figure 4c) as bilateral radiolucent intrabony lesion on infraorbital floor, without any correlation with pathological lesion.

Further, ancestral analysis was impossible as the grandparents had passed away. However among brothers, sisters, uncles of patient no history of any genetic disorders could be traced. His children were also disease free from any genetic disease.

Figure 1. Profile photograph with shoulders brought closer

Figure 2. PA View chest. Bilaterally partially developed clavicles

Figure 3 a. Orthopantogram showing impacted and supernumerary teeth

Figure 4. A, b CT images showing dental status and c showing poorly developed infraorbital floor with bilateral radiolucent intrabony lesion on infraorbital region and supernumerary teeth

3. Discussion

Cleidocranial dysplasia has been considered as a genetic disorder and in most of the cases a familial incidence has been reported. It is seen approximately 33% of the reported cases and its occurrence has been reported in as many as five successive generation. The disease appears to be inherited as autosomal dominant disease. [6] However, chances of sporadic occurrence cant be ignored and our case may be considered as an example of that. The family history in this case did not reveal any affliction in direct ancestors or descendents. The family history could be traced up to two generations, it did not reveal any presence of such disease. In such cases the disease is possibly inherited as recessive character or new dominant mutation or as an incomplete change in a genetic trait with different gene expression. [7]

This case presents many extra oral and intra oral characteristic anomalies which are characteristic of CCD. Individuals with this disorder bear characteristic features like reduced height, large brachycephalic head, small and angular face, prominent frontal and parietal bones and drooping shoulder with excessive mobility. Clavicular involvement may vary and depending on the amount of its involvement. [8] Intraoral findings are high arched palate, retention of deciduous teeth, delayed eruption of permanent teeth and the presence of large number of impacted supernumerary teeth. [9] Mid line deformities are very common due to generalized failure of midline ossification. Thus this leads t patent fontanella, metopic suture and wormian bones, nasal deformit, hypoplasia or absence of clavicles, spina bifida and delayed closure of pubic symphysis. Oral deformities may be manifested as non-union of mandibular symphysis, high palatal vault, cleft palate. [10] These all the features were present in our case. In this case we observed a so not reported finding i.e. bilateral intrabony cystic appearance in infra orbital rim, without any clinical or pathological association.

Previous studies have indicated in 2% cases, the height of the individual is remains normal up to age of 4 to 8 year. [11] In addition there is some disproportionate short stature with short limbs compared to trunk, more apparent in upper limbs than in lower limbs. Although literature reveals more affliction in females but previous case report from Saudi Arabia is from patient and this is second case. Due to rarity of this disease in Saudi Arabia its predilection in Females could not be conformed. [5] Other peripheral abnormalities include delayed mineralization of pubic bone, broad pubic symphysis, and narrow pelvis. Occasionally spina bifida may be also present and thoracic cage may be small and bell shaped with short ribs. [12,13]

4. Conclusion

In individuals suffering from CCD, certain complications are common which include dental caries, osteomyelitis of the mandible or maxilla, respiratory distress in early infancy, in late stages shoulder and hip dislocation, upper airway complications, recurrent ear infection, hearing lose. [14,15]

References

[1]   | Jensen BL. Cleidocranial dysplasia: craniofacial morphology in adult patients. J Craniofac Genet Dev Biol 1994; 14: 163-76.
[2]   | Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet 1997; 16: 307-10.
[3]   | Lee B, Zhou G. RUNX2 and cleidocranial dysplasia. In: Epstein CJ, Erickson RP, WynshawBoris A, editors. Inborn errors of development. New York: Oxford 2004; pp: 331-9.
[4]   | Mundols S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 1999; 36: 177-82.
[5]   | Jarvis JL, Keats TE. Cleidocranial dysostosis. A review of 40 new cases. Am J Roentgenol Radium Ther Nucl Med 1974; 121: 5-16.
[6]   | Aegert E, Kirkpatrik JA. The skeletal dysplasia. Orthopedic Diseases, 4th Ed., Philadelphia.WB Saunders Co 1975:193-5.
[7]   | Forland M. Cleidocranial dysostosis. A review of the syndrome and report of a sporadic case, with hereditary transmission. Am J Med 1962; 33: 792-9.
[8]   | Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 1999; 36: 177-82.
[9]   | Shafer WG, Hine MK, Levy BM. Diseases of Bones and Joints; Cleidocranial Dysplasia. Oral Pathology. 4th Ed.Philadelphia. WB Saunders Co 1984: 363-5.
[10]   | Jensen BL. Somatic development in Cleidocranial dysplasia. Am J Med Genet 1990; 35: 69-74.
[11]   | Kempfle B. Familial Cleidocranial dysostosis. Dtsch Zahnartl Z 1965; 20: 1364-9.
[12]   | Gulati S, Kabra M. Cleidocranial dysplasia. J Postgrad Med 2001; 47: 204-5. 15. Mendoza LR, Lee B. Cleidocranial dysplasia In: Pagon RA, Bird TD, Dolan CR.
[13]   | Stephens K, ed. GeneReviews [Internet]. University of Washington. Seattle. updated 2009 Jun 25.
[14]   | Golan I, Baumert U, Hrala BP, et al. Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systematic review. Dento maxillofac Radiol 2003; 32: 347-54. 17.
[15]   | Yochum TR, Rowe LJ. Essentials of Skeletal Radiology. 2nd Ed. Baltimore. Williams and Wilkins 1996; 589-92.