%0 Journal Article 
%T Hereditary multiple exostosis
%D 2014
%@ 0025-7680
%U http://hdl.handle.net/10906/81218
%X Multiple Hereditary Exostoses (HME) is an autossomal dominant disorder that exhibits
multiple benign osteocartilaginous bone tumours that arise near the ends of long
bones during childhood. The most common complaint is pain and the exostoses may
degenerate into chondrosarcomas.
We report a female patient who underwent a rehabilitation program to ease her
complaints caused by a large exostosis in the left femur and displayed an exostose
of the nasal septa, feature never described before in HME. Molecular study
confirmed a novel mutation on the EXT 1 gene. The mutation of a cytosine for a
guanine nucleotide in the position 830 on the exon 1 of the EXT 1 gene (c.830C
> G) caused the replacement of the serine aminoacid for a stop codon in the
position 277 of the protein.
%K Rehabilitación
%K Condrosarcoma
%K Exostosis Múltiple Hereditaria (EMH)
%K Ciencias  socio biomédicas
%K Medical sciences
%~ GOEDOC, SUB GOETTINGEN