Challenging Diagnosis of Stickler Syndrome in a Patient with Premature Osteoarthritis: A Case Report
Department of Orthopedics and Physical Rehabilitation
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Diagnosis | Musculoskeletal Diseases | Orthopedics
CASE: A 53-year-old male patient, subsequently diagnosed with type I Stickler syndrome, presented with severe premature osteoarthritis associated with bilateral hip dysplasia and knee epiphyseal dysplasia. Despite the presence of the typical manifestations of orofacial defects, hearing, ocular, and musculoskeletal abnormalities, the patient had never been diagnosed with the syndrome.
CONCLUSION: Stickler syndrome can present with a wide spectrum of musculoskeletal abnormalities without previous diagnosis. It is often underrecognized if the manifestations of other systems are not appreciated. Stickler syndrome should be considered in the differential diagnosis of patients with unexplained musculoskeletal abnormality particularly in the presence of other system manifestations.
hereditary progressive arthro-ophthalmopathy, hip dysplasia, knee epiphyseal dysplasia, early-onset osteoarthritis
DOI of Published Version
Yousef MA, Ayers DC. Challenging Diagnosis of Stickler Syndrome in a Patient with Premature Osteoarthritis: A Case Report. JBJS Case Connect. 2021 Mar 23;11(1). doi: 10.2106/JBJS.CC.20.00687. PMID: 33755637. Link to article on publisher's site
JBJS case connector
Yousef MA, Ayers DC. (2021). Challenging Diagnosis of Stickler Syndrome in a Patient with Premature Osteoarthritis: A Case Report. University of Massachusetts Medical School Faculty Publications. https://doi.org/10.2106/JBJS.CC.20.00687. Retrieved from https://escholarship.umassmed.edu/faculty_pubs/1976