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Revista argentina de radiología
versão On-line ISSN 1852-9992
Resumo
VELAN, Osvaldo; TARZIAN, Carlos Alberto e FUSTINANA, Carlos. Discondrosteosis. Rev. argent. radiol. [online]. 2008, vol.72, n.3, pp.297-299. ISSN 1852-9992.
Bone displasias and congental entities that present low height, involve a broad and wide number of syndromes and diseases. Many of them can be detected from plane X ray scans. Two cases (mother and son) presenting Léri-Weill dyschondrosteosis fenotipe consisting on bilateral wrist Madelung deformity and low height (mesomelical origin) in anteroposterior and lateral projection x ray, of both family members. The genotype examination becomes imprescindible due to the association level between these findings with different syndromes. To alert the referant phisician, the radiologist should be able to identify and characterized the different findings, in order to correctly face de genetical examination of the patients.
Palavras-chave : Dyschondrosteosis; Léri-Weill Disease; Madelung deformity; Mesomelic enanysm.