Literature DB >> 7320981

[Hyaloretinal degeneration with osteoporosis and bone fragility. Pseudoglioma with bone fragility (author's transl)].

J Sauvegrain, J L Dufier, H Vacher, J C Charlot, L Ho'Ang Phuc, C Haye.   

Abstract

Three patients from the same family presented hyaloretinal dysplasia (pseudoglioma) associated with osteoporosis and bone fragility. Results of clinical, ophthalmological, and radiological examinations in these three cases are described, together with those reported in the literature concerning 21 other cases of this rare autosomal-recessive affection.

Entities:  

Mesh：

Year:  1981        PMID： 7320981

Source DB:  PubMed          Journal:  J Radiol        ISSN： 0221-0363


  3 in total

1.  Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

Authors:  Y Gong; M Vikkula; L Boon; J Liu; P Beighton; R Ramesar; L Peltonen; H Somer; T Hirose; B Dallapiccola; A De Paepe; W Swoboda; B Zabel; A Superti-Furga; B Steinmann; H G Brunner; A Jans; R G Boles; W Adkins; M J van den Boogaard; B R Olsen; M L Warman
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

2.  Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.

Authors:  A S Teebi; S A Al-Awadi; M J Marafie; R A Bushnaq; S Satyanath
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318

3.  The osteoporosis pseudoglioma syndrome. Update and report on two affected siblings.

Authors:  W Swoboda; F Grill
Journal:  Pediatr Radiol       Date:  1988
  3 in total

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