University of Massachusetts Medical School Faculty Publications

Title

Challenging Diagnosis of Stickler Syndrome in a Patient with Premature Osteoarthritis: A Case Report

UMMS Affiliation

Department of Orthopedics and Physical Rehabilitation

Publication Date

2021-03-23

Document Type

Article

Disciplines

Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Diagnosis | Musculoskeletal Diseases | Orthopedics

Abstract

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.

Keywords

hereditary progressive arthro-ophthalmopathy, hip dysplasia, knee epiphyseal dysplasia, early-onset osteoarthritis

DOI of Published Version

10.2106/JBJS.CC.20.00687

Source

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

Related Resources

Link to Article in PubMed

Journal/Book/Conference Title

JBJS case connector

PubMed ID

33755637

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