Department of Orthopaedic Surgery, University of Massachusetts Medical School, Worcester, Massachusetts.
Department of Orthopaedic Surgery, Sohag University, Sohag, Egypt.
JBJS Case Connect. 2021 Mar 23;11(1):01709767-202103000-00056. doi: e20.00687.
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.
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.
一名 53 岁男性患者，随后被诊断为 I 型斯惕克勒综合征，表现为严重的早发性骨关节炎，伴有双侧髋关节发育不良和膝关节骺发育不良。尽管存在典型的面颌部缺陷、听力、眼部和骨骼肌肉异常的表现，但该患者从未被诊断为该综合征。
斯惕克勒综合征可表现出广泛的骨骼肌肉异常，而之前并未被诊断。如果其他系统的表现不被重视，那么这种综合征往往容易被漏诊。对于不明原因的骨骼肌肉异常患者，特别是在存在其他系统表现的情况下，应考虑斯惕克勒综合征的鉴别诊断。
