Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis.
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.
Rai
A
A
Department of Rheumatology, Coventry and Warwickshire Hospital.
Wordsworth
P
P
Coppock
J S
JS
Zaphiropoulos
G C
GC
Struthers
G R
GR
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
D003094:Collagen