Literature DB >> 794825

[Dominant generalized cortical hyperostosis with multiple involvement of the cranial nerves].

J Lapresle, P Maroteaux, R Kuffer, G Said, O Meyer.   

Abstract

The authors report an observation of dominant generalized cortical hyperostosis with multiple and unilateral involvement of a certain number of cranial nerves. In other members of the family, who present with the same bone disorder, involvement of the cranial nerves was limited to the facial nerve, either uni or bilaterally, with a partially or totally regressive evolution. This cranial nerve involvement, which is classic in the recessive form (first described) of generalized cortical hyperostosis, has until now, never been reported in the dominant form of this disorder.

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Year:  1976        PMID: 794825

Source DB:  PubMed          Journal:  Nouv Presse Med        ISSN: 0301-1518


  2 in total

Review 1.  Craniotubular bone disorders.

Authors:  R J Gorlin
Journal:  Pediatr Radiol       Date:  1994

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

  2 in total

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