title: Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis.
abstract: A number of factors contribute to the pathogenesis of osteoarthritis. Genetic factors are predominant in some cases, including the syndrome of hereditary arthro-ophthalmopathy. The clinical features of the syndrome and the concept of genetic mutations in matrix components are discussed.
authors.affiliation: Department of Rheumatology, Coventry and Warwickshire Hospital.
authors.forename: A
authors.initials: A
authors.lastname: Rai
authors.forename: P
authors.initials: P
authors.lastname: Wordsworth
authors.forename: J S
authors.initials: JS
authors.lastname: Coppock
authors.forename: G C
authors.initials: GC
authors.lastname: Zaphiropoulos
authors.forename: G R
authors.initials: GR
authors.lastname: Struthers
mesh_terms: D000328:Adult; D000368:Aged; D003094:Collagen / Q000235:genetics; D005128:Eye Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010003:Osteoarthritis / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
chemical_list: D003094:Collagen