Literature DB >> 2028072

[Endosteal hyperostosis with recessive transmission (Van Buchem's disease). A case report].

R Bettini1, V Sessa, R Mingardi, A Molinari, P Anzani, V Vezzetti.   

Abstract

A rare case of Van Buchem's disease is described. This disease is a hereditary sclerosis dysplasia of bone which particularly affects the skull and long bones, the characteristic features being the endosteal deposition of bone, particularly in the diaphyses.

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Mesh：

Year:  1991        PMID： 2028072

Source DB:  PubMed          Journal:  Recenti Prog Med        ISSN： 0034-1193


  4 in total

1.  Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.

Authors:  W Van Hul; W Balemans; E Van Hul; F G Dikkers; H Obee; R J Stokroos; P Hildering; F Vanhoenacker; G Van Camp; P J Willems
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

2.  Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.

Authors:  W Balemans; J Van Den Ende; A Freire Paes-Alves; F G Dikkers; P J Willems; F Vanhoenacker; N de Almeida-Melo; C F Alves; C A Stratakis; S C Hill; W Van Hul
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

3.  Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease.

Authors:  W Balemans; N Patel; M Ebeling; E Van Hul; W Wuyts; C Lacza; M Dioszegi; F G Dikkers; P Hildering; P J Willems; J B G M Verheij; K Lindpaintner; B Vickery; D Foernzler; W Van Hul
Journal:  J Med Genet       Date:  2002-02       Impact factor: 6.318

4.  Van Buchem disease: lifetime evolution of radioclinical features.

Authors:  Filip M Vanhoenacker; Wendy Balemans; Gregorius J Tan; Frederik G Dikkers; Arthur M De Schepper; Danny G P Mathysen; Anja Bernaerts; Wim Van Hul
Journal:  Skeletal Radiol       Date:  2003-10-01       Impact factor: 2.199
  4 in total

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