Document Detail


Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin.
MedLine Citation:
PMID:  7891385     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report the first observation of sclerosteosis in Spain. To the best of our knowledge, this is the first case of sclerosteosis in a person of Mediterranean origin with no known Dutch ancestors. He has the characteristic phenotype of the disease with right facial nerve palsy and syndactyly and the typical radiological features, including generalised bone sclerosis and cortical widening of the tubular bones.
Authors:
M Bueno; G Oliván; A Jiménez; J M Garagorri; A Sarría; A L Bueno; M Bueno; F J Ramos
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  31     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1994 Dec 
Date Detail:
Created Date:  1995-04-20     Completed Date:  1995-04-20     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  976-7     Citation Subset:  IM    
Affiliation:
Departmento de Traumatología, Facultad de Medicina, Hospital Clínico Universitario, Lozano Blesa, Universidad de Zaragoza, Spain.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Humans
Hyperostosis / pathology*,  radiography
Male
Osteochondrodysplasias / pathology*,  radiography
Spain
Comments/Corrections

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