Resumo

HERES ZALAZAR, Ana Iris et al. Presentation of a Family with Multiple Family Enchondromatosis . CCM [online]. 2014, vol.18, n.4, pp. 776-784. ISSN 1560-4381.

Multiple family enchondromatosis was described by Virchow in 1910, is presented with a pattern of autosomal dominant inheritance. The enchondromatosis comprise a heterogeneous group of congenital syndromes characterized by the presence of multiple enchondromas associated with musculoskeletal deformities secondary to shortening of the limbs. A family with four members affected, whose diagnosis was made by the clinical method through physical examination and imaging was presented. It is important to made an early diagnosis of this disease because of the possibility of a secondary prevention in patients as well as to provide appropriate genetic counseling to the family.

Palavras-chave : discondrosisplasia; internal chondromatosis; enchondromatosis or family multiple chondromatosis.

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