What syndrome is characterized by a meniscus tear, metacarpal (hand bone) fracture, and spondylolisthesis (vertebral slip)?

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Differential Diagnosis for Meniscus Tear, Metacarpal Bone Fracture, and Spondylolisthesis

  • Single Most Likely Diagnosis

    • Ehlers-Danlos Syndrome: This is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Its features, such as joint hypermobility, skin hyperextensibility, and tissue fragility, could explain the combination of meniscus tear, metacarpal bone fracture, and potentially the development of spondylolisthesis due to ligamentous laxity.
  • Other Likely Diagnoses

    • Marfan Syndrome: Although more commonly associated with aortic root dilatation and ectopia lentis, Marfan syndrome can also present with musculoskeletal manifestations such as joint hypermobility and an increased risk of osteoporosis, which might contribute to fractures and potentially to spondylolisthesis.
    • Osteogenesis Imperfecta: This condition is characterized by bones that break easily, often with little or no apparent cause. While it primarily affects bone, the presence of blue sclerae, hearing loss, and dental problems can also be seen. The fractures and potential for spinal deformities could align with the symptoms described.
  • Do Not Miss Diagnoses

    • Osteoporosis: Especially in the context of a metacarpal bone fracture, osteoporosis is crucial to consider, as it significantly increases the risk of fractures. Spondylolisthesis could be a result of osteoporotic vertebral body fractures.
    • Trauma: A significant traumatic event could result in multiple injuries, including meniscus tears, fractures, and vertebral displacement. It's essential to consider the patient's history and perform a thorough examination to rule out recent or past trauma.
  • Rare Diagnoses

    • Stickler Syndrome: A genetic disorder characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. It could potentially explain the musculoskeletal findings, though it is less common.
    • Loeys-Dietz Syndrome: This syndrome is characterized by aortic aneurysm, arterial tortuosity, and a variety of other features including craniofacial abnormalities and musculoskeletal problems. While less likely, it's a consideration in the differential due to its potential for widespread systemic involvement.

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This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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