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A Journal on Dentistry and Maxillofacial Surgery


Official Journal of the Italian Society of Odontostomatology and Maxillofacial Surgery
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ORIGINAL ARTICLES  


Minerva Stomatologica 2012 October;61(10):421-9

language: English, Italian

Oral manifestation of cleido cranial displasia

Sberna M. T. 1, De Angelis D. 2, Laruffa F. 1, Tettamanti L. 3, Storti E. 1, Lucchese A. 1

1 Department of Dentistry, Vita Salute University, San Raffele Hospital, Milan, Italy;
2 Private Practictioner, Genoa, Italy;
3 Department of Dentistry, University of Insubria, Varese, Italy


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Cleidocranial dysplasia (CCD) is a congenital hereditary condition caused by a dominant autosomal mutation. The orthodontic management of CCD patients is often complicated by the manifestations associated with the condition. The aim of this study was to evaluate the oral manifestations of patients suffering from CCD. The subjects underwent a thorough clinical evaluation that examined both hard and soft tissue. The subjects also underwent an X-ray examination in order to isolate possible anomalies in the stomach region related to the condition. Case 1 presented with a bilateral cross-bite, retention of deciduous teeth, presence of supernumerary teeth and agenesis. Case 2 presented with bilateral cross-bite, retention of deciduous teeth, and the presence of supernumerary teeth. The individuals in this study represent a broad range of typical CCD manifestations and confirm the close correlation between the mutation at CBFA1 level and the presence or oral-dental alterations. An early diagnosis of CCD is essential and based on clinical manifestations, x-ray evidence and genetic tests. Diagnosing the condition can be difficult in cases where there are no evident morphological signs; however, in most cases, an alteration in the rhythm of deciduous tooth loss is immediately apparent, making a closer collaboration between dentists and geneticists fundamental in achieving early diagnosis. As stated above, the timing of the treatment is crucial in establishing a correct course of treatment that involves extractions, orthodontic surgery and the use of prosthetics.

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