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Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: Analysis of a global patient-reported registry

European Spine Journal Aug 02, 2019

Nouri A, Patel K, Evans H, et al. - Data collected from the CoRDS registry of 70 individuals with cervical fusions categorized into Type I, II, or III based on the Samartzis criteria was analyzed by the researchers in order to report one of the largest collections of Klippel-Feil syndrome (KFS, occurs due to failure of vertebral segmentation during development) patient records. Patients were classified as Type I (n = 21), Type II (n = 15), and Type III (n = 39). Cervical fusion by level were OC–C1 (n = 17), C1–C2, (n = 24), C2–C3 (n = 42), C3–C4 (n = 30) C4–C5 (n = 42), C5–C6, (n = 32), C6–C7 (n = 25), and C7–T1 (n = 13). Nearly 94.6% of individuals reported current symptoms and the average age when symptoms started and got worse were 17.5 and 27.6, respectively. Patients described having a great number of comorbidities including spinal, neurological and others, a high frequency of general symptoms (e.g., fatigue, dizziness) and chronic symptoms. In 26.7%, Sprengel deformity was observed. Most individuals had received medication and invasive/non-invasive procedures. Multilevel fusions (Samartzis II/III) were significantly correlated with dizziness, the presence of a limited range of neck motion, and Sprengel deformity. Hence, KFS was correlated with a number of musculoskeletal and neurological symptoms. Fusions were more common toward the center of the cervical region and less prevalent at the occipital/thoracic junction. Moreover, in KFS patients with multilevel cervical fusions, related comorbidities including Sprengel deformity may be more prevalent.
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