Cammarata-Scalisi F, Stock F, Avendaño A, Cozar M, Balcells S, Grinberg D

Language: Spanish
References: 13
Page: 108-111
PDF size: 171.44 Kb.

ABSTRACT

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.

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