Article
Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis.
British journal of rheumatology - 1 Dec 1994
Rai A, Wordsworth P, Coppock J S, Zaphiropoulos G C, Struthers G R
Abstract excerpt
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.
Topics
- Adult
- Aged
- Collagen
- Eye Diseases
- Family Health
- Female
- Humans
- Male
- Mutation
- Osteoarthritis
- Pedigree
- Phenotype
- Syndrome
