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Archivos argentinos de pediatría
versão impressa ISSN 0325-0075versão On-line ISSN 1668-3501
Resumo
CAFIERO, Pablo e CANO, Alejandro. Displasia cleidocraneal. Arch. argent. pediatr. [online]. 2006, vol.104, n.1, pp.44-47. ISSN 0325-0075.
Skeletal dysplasias are uncommon genetic conditions with a chronic course and without curative treatment. We present the case of an 8 year old boy, who was seen at the CESAC Nº 5 of the City of Buenos Aires. He consulted for an acute rhinosinusitis, and at that time a peculiar phenotype was observed. A detailed clinical history was completed and we suspected a diagnosis of cleidocranial dysplasia.
Palavras-chave : Skeletal dysplasia; Phenotypical characteristics.