Literature DB >> 794463

[New cases of familial generalized cortical hyperostosis with dominant transmission (Worth's type) (author's transl)].

M Vayssairat, A Prier, C Meisel, J P Camus, J Grellet.   

Abstract

A case of two families with a total of 5 cases of generalized cortical hyperostosis of the cortex of the long bones is clinically latent. It is not accompanied by any osseous fragility and is usually discovered by chance. Mandibular hypertrophy can occur but is not constant. It must be differentiated from the recessive form described by Van Buchen, which is more severe and involves extensive and progressive osteocondensation which can lead to paralysis of the cranial nerves. The small number of cases published (23) leads one to suppose that its diagnosis is frequently missed, undoubtedly because it is mixed up with a minor form of osteopetrosis.

Entities:  

Mesh:

Year:  1976        PMID: 794463

Source DB:  PubMed          Journal:  J Radiol Electrol Med Nucl        ISSN: 0368-3966


  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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