%0 Journal Article
%T Advantages of cone beam computed tomography (CBCT) in the orthodontic treatment planning of cleidocranial dysplasia patients: a case report
%A Domenico Dalessandri
%A Laura Laffranchi
%A Ingrid Tonni
%A Francesca Zotti
%A Maria Piancino
%A Corrado Paganelli
%A Pietro Bracco
%J Head & Face Medicine
%D 2011
%I BioMed Central
%R 10.1186/1746-160x-7-6
%X Cleidocranial dysplasia (CCD), also known as cleidocranial dysostosis or Marie-Sainton syndrome, is a disorder that affects most prominently those bones derived from endochondral and intramembranous ossification and it's characterized by defective development of the cranial bones and by the complete or partial absence of the clavicles. Diagnosis is based on clinical and radiographic findings, that include imaging of the cranium, thorax, pelvis and hands. Frequently these patients presents a delayed ossification of the skull fontanels and a premature closing of the coronal suture that leads to a frontal, parietal and occipital bossing of the skull; a short stature, occasionally accompanied by a spinal scoliosis; a wide and flat nasal bridge due to hypertelorism; different anomalies of pubis and hipbone, with flat feet and knock knees; a brachycephaly with an high arched palate and sometimes cleft palate; a prolonged retention of deciduous teeth and several impacted permanent successors and supernumerary elements, sometimes accompanied by follicular cysts and eruptive pseudocysts [1,2]. This pathology is transmitted as an autosomal dominant trait or it's caused by a spontaneous genetic mutation and is present at a frequency of one in one million individuals. To date, RUNX2(CBFA1) is the only gene known to be associated with CCD; although not all cases clinically diagnosed have mutations in RUNX2, there is little additional evidence for locus heterogeneity. Mutations in RUNX2 have a high penetrance and extreme variability. CCD affects all ethnic groups [3,4].Although the spectrum of phenotypic variability in CCD ranges from primary dental anomalies to all CCD clinical features plus osteoporosis, no clear phenotype-genotype correlation has been established [5].Children with CCD should be monitored for orthopedic complications, dental abnormalities, upper airway obstruction, sinus and ear infections, hearing loss, and osteoporosis.The most important dental problem associ
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