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Acta ortopédica mexicana

versión impresa ISSN 2306-4102


CAMMARATA-SCALISI, F et al. Clinical and molecular study in a family with multiple osteochondromatosis. Acta ortop. mex [online]. 2018, vol.32, n.2, pp.108-111. ISSN 2306-4102.

We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219C>T, (p.Gln407Stop) in the EXT1 gene. In these cases, the Madelung deformity was presented in one patient as an uncommon finding and chondrosarcoma as a feared complication in the other case, highlighting intrafamilial variation, which is why individual and interdisciplinary evaluation is recommended. In addition, before a genetic entity should provide adequate and timely family genetic counseling to all its members.

Palabras llave : Multiple osteochondromatosis; clinical; EXT1; genetic counseling.

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