Osteoarthritis at young age, a diagnostic challenge: a case of stickler syndrome

A young woman presents with severe polyarticular osteoarthritis with relevant family history potentially suggesting a hereditary disease. Previously, the patient's mother had been diagnosed with rheumatoid arthritis and reported to have suffered from some locomotor problems. Careful clinical evaluation with an extensive personal and familial history pointed towards a diagnosis of Stickler syndrome, an autosomal dominant condition with progressive arthro-ophthalmopathy, (early osteoarthritis and myopia). Following this timely diagnosis, genetic counselling was offered.