Literature DB >> 3276528

Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis).

J P Fryns1, H Van den Berghe.   

Abstract

In this paper we report a 7.5-year-old physically normal boy with van Buchem disease (endosteal hyperostosis). Vague complaints of headache were the indication for X-ray examination. At the age of 2 months a left-side peripheral facial nerve palsy suddenly occurred in this boy. Skull X-rays gave normal results at that age, suggesting that encroachment of the cranial nerves in van Buchem disease may occur as early as in the postnatal period, even before sclerosis of the skull has become radiologically visible.

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Year:  1988        PMID: 3276528     DOI: 10.1007/bf00442624

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  2 in total

1.  Hyperostosis corticalis generalisata. Report of seven cases.

Authors:  F S VAN BUCHEM; H N HADDERS; J F HANSEN; M G WOLDRING
Journal:  Am J Med       Date:  1962-09       Impact factor: 4.965

2.  An uncommon familial systemic disease of the skeleton: hyperostosis corticalis generalisata familiaris.

Authors:  F S VAN BUCHEM; H N HADDERS; R UBBENS
Journal:  Acta radiol       Date:  1955-08       Impact factor: 1.990

  2 in total
  5 in total

Review 1.  TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.

Authors:  Elena Gallo MacFarlane; Julia Haupt; Harry C Dietz; Eileen M Shore
Journal:  Cold Spring Harb Perspect Biol       Date:  2017-11-01       Impact factor: 10.005

2.  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

3.  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

4.  Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.

Authors:  M E Brunkow; J C Gardner; J Van Ness; B W Paeper; B R Kovacevich; S Proll; J E Skonier; L Zhao; P J Sabo; Y Fu; R S Alisch; L Gillett; T Colbert; P Tacconi; D Galas; H Hamersma; P Beighton; J Mulligan
Journal:  Am J Hum Genet       Date:  2001-02-09       Impact factor: 11.025

5.  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

  5 in total

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