Van Buchem disease
Van Buchem disease, or hyperostosis corticalis generalisata is an autosomal recessive skeletal disease which is characterised by uninhibited bone growth, especially in the mandible, skull and ribs. The disease was first described in 1955 by Prof. Franciscus Stephanus Petrus van Buchem, when describing two patients of the same family in Urk in the Netherlands. The cause, he found, was that the bone was produced faster than the body broke it down, making it much thicker as the patient got older. The first symptoms experienced by the affected were often deafness and paralysis of the face, caused by the growing bone pinching the nerves. This condition can be traced to a deletion on chromosome 17q. As the disease is recessive, a child will only be affected by the disease if both of the parents
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Van Buchem disease
Van Buchem disease, or hyperostosis corticalis generalisata is an autosomal recessive skeletal disease which is characterised by uninhibited bone growth, especially in the mandible, skull and ribs. The disease was first described in 1955 by Prof. Franciscus Stephanus Petrus van Buchem, when describing two patients of the same family in Urk in the Netherlands. The cause, he found, was that the bone was produced faster than the body broke it down, making it much thicker as the patient got older. The first symptoms experienced by the affected were often deafness and paralysis of the face, caused by the growing bone pinching the nerves. This condition can be traced to a deletion on chromosome 17q. As the disease is recessive, a child will only be affected by the disease if both of the parents
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Choroba van Buchema (łac. hype ...... ypie 2 autosomalne dominujące.
@pl
Das Van-Buchem-Syndrom ist ein ...... er van Buchem und Mitarbeiter.
@de
De ziekte van Van Buchem of hy ...... erfelijke aandoeningen groter.
@nl
La maladie de Van Buchem est u ...... s en rapport avec le gène SOST
@fr
Van Buchem disease, or hyperos ...... plete relief of his symptoms."
@en
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Choroba van Buchema (łac. hype ...... ypie 2 autosomalne dominujące.
@pl
Das Van-Buchem-Syndrom ist ein ...... er van Buchem und Mitarbeiter.
@de
De ziekte van Van Buchem of hy ...... r het vanbuchemallel (d.w.z. h
@nl
La maladie de Van Buchem est u ...... s en rapport avec le gène SOST
@fr
Van Buchem disease, or hyperos ...... isease if both of the parents
@en
label
Choroba van Buchema
@pl
Maladie de Van Buchem
@fr
Van Buchem disease
@en
Van-Buchem-Syndrom
@de
Ziekte van Van Buchem
@nl