Abstract

MARQUEZ IBANEZ, Nilson et al. Characterization of Cleidocranial Dysostosis in a Family. CCM [online]. 2013, vol.17, n.4, pp. 425-432. ISSN 1560-4381.

Introduction: cleidocranial dysplasia or dysostosis is a rare skeletal dysplasia that affects long bones, especially clavicles and maxillofacial area, number abnormalities, rash, prognathism and widening of the zygomatic arch can be observed. CBFA1/RUNX2 gene mutation located on 6p21 considered the master gene in the formation of bones and teeth is associated to the condition, as well as other mutations in other genes. Objective: to describe the behavior of cleidocranial dysostosis in a family. Methods: a clinical, radiographic study and the pedigree of the only one affected family by cleidocranial dysostosis, descendants of a Spanish immigrant who settled in the town of Urbano Noris and exerted a founder effect were described. Results: deformity with shortening of clavicles and brachycephaly was presented in 100% of patients. In the second generation this deformity was not observed because this gene was expressed with reduced penetrance. Conclusions: an autosomal dominant inheritance pattern, affecting 19 members in five generations was showed and only nine of them were studied, in this family the condition with reduced penetrance was showed. Discrepancy was found between the dimensions of the skull, face and chest deformity by shortening both clavicles in the total of those affected, which was the most striking clinical sign. Dysplasia of both clavicles and brachycephaly were the most common radiographic abnormalities.

Keywords : cleidocranial dysostosis; cleidocranial dysplasia; Pirre Marie - Sainton disease.

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