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Management of Craniocervical Instability in Spondyloepiphyseal Dysplasia Congenita: Assessment of Literature and Presentation of Two Cases.
Curēus 2022 July
Spondyloepiphyseal dysplasia congenita (SEDC) is a rare autosomal dominant skeletal dysplasia resulting in impairment of type II collagen function. Phenotypically, this results in various skeletal, ligamentous, ocular, and otologic abnormalities. Platyspondyly, scoliosis, ligamental laxity, and odontoid hypoplasia are common, resulting in myelopathy in a high number of patients due to atlantoaxial instability. Despite patients undergoing surgical fixation, complication rates such as nonunion have been reported to be high. Here within, we present two patients treated with occipitocervical fusion for atlantoaxial instability and early symptoms of progressive myelopathy. We additionally provide a detailed review of the literature to inform practitioners of the spinal manifestations and clinical considerations in SEDC.
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