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Revista Cubana de Medicina
versão On-line ISSN 1561-302X
Resumo
AROCHA RODRIGUEZ, Rafael; VAZQUEZ CRUZ, Carmen Martha; VAZQUEZ CRUZ, Andrés e CRUZ SEGUNDO, Regla. Disostosis cleidocraneal. Estudio familiar. Rev cubana med [online]. 2002, vol.41, n.3, pp. 178-184. ISSN 1561-302X.
The cleidocranial dysostosis, a skeletal hereditary disease that is transmitted in a dominant autosomal way, was studied. 4 subjects from 3 generations of a same family were analyzed. It was observed, as a fundamental characteristic, that the farthest they were from the first offspring, the least ostensible the caput cuadrantum and the clavicular agenesia were. It was radiologically proved that the third offspring presented remnant clavicles and that the disease did not shorten the patients life expectancy. The clinical and radiological images of the 4 studied patients were shown.
Palavras-chave : CLEIDOCRANIAL DYSPLASIA [genetics]; RADIOGRAPHY; FAMILY; HEREDITARY DISEASES.