Adult presentation of Stickler syndrome type III

Few clinical cases have been published on Stickler syndrome type III, and all describe the pediatric presentation. We describe an adult presentation of the syndrome in a 67-year-old woman and provide a report on the clinical and radiographic features supporting diagnosis. A chart review and updated investigations were performed to elucidate the presenting history and disease progression in the patient. Clinically, the patient was 42 years old when she presented with a 22-year history of bilateral knee pain and atypical osteoarthritis (OA) of an inflammatory but non-erosive character. The patient also reported increasing hearing loss for high-pitched frequencies. Radiography/X-rays at age 42 years showed severe, non-erosive tri-compartmental OA changes. Atypical destructive changes were identified in the small joints. The son of the patient developed left knee pain and bilateral knee swelling since the age of 9 years. He was diagnosed with early-onset OA and also underwent bilateral knee arthroplasties in his third decade, similar to his mother. The grandson presented at age 4 years, with recurrent, acute episodes of pain and swelling in his ankles and knees and was diagnosed with pediatric OA. A mutation of the COL11A2 gene was confirmed in the patient at aged 63 years. This is the first clinical case report on the adult presentation of Stickler syndrome type III. In particular, early-onset OA or an unrecognized skeletal dysplasia can be considered as rationale for genetic testing, screening, and surveillance of both past and present family members of an affected patient.