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

Patel, Kishan; Evans, Hardy; Saleh, Mohamed; Kotter, Mark R N; Heary, Robert F.; Tessitore, Enrico; Fehlings, Michael G.; Nouri, Aria

doi:10.1007/s00586-019-06084-0

Cited by 20 publications

(17 citation statements)

References 14 publications

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“…This study also found an approximate female:male prevalence of 5:2. A global patient-reported registry revealed over 25% of KFS patients have Sprengel deformity [12]. Other comorbidities include rib abnormalities, hearing impairment, and genitourinary abnormalities [13].…”

Section: Discussionmentioning

confidence: 99%

Images in Spine: A Rare Abnormal Bony Fusion

Mahajan¹,

Labak²,

Labak³

et al. 2021

Cureus

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Klippel-Feil syndrome (KFS) is characterized by failed segmentation of the cervical spine leading to inappropriately fused vertebral bodies. A 64-year-old male with a previous L5-S1 decompression presented with significant neck pain with radiation into the entire right upper extremity and hand. Imaging demonstrated fusion of the vertebral bodies at C2-3, C4-6, and C7-T1 with associated disc bulges at C3-4 and C6-7. Common presentation of KFS includes significant spondylosis and cervical myeloradiculopathy in addition to the classic triad of short neck, low posterior hairline, and restricted neck motion. We present exemplary images of this rare condition to aid clinicians in future diagnoses.

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Section: Discussionmentioning

confidence: 99%

Images in Spine: A Rare Abnormal Bony Fusion

Mahajan¹,

Labak²,

Labak³

et al. 2021

Cureus

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“…A vértebras cervicales, implantación baja del cabello y cuello corto con movilidad limitada 9,14 . Está causado por una alteración en la migración del tejido mesodérmico entre la tercera y cuarta SDG.…”

Section: B Cunclassified

Deformidad de Sprengel asociada a síndrome de Klippel-Feil. Reporte de un caso

Ponce-Nájera¹,

Villalobos-Mata²,

Morales-Aguilar³

et al. 2021

ARM

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La deformidad de Sprengel es la malformación congénita más común de la escápula. Se caracteriza por una elevación y malrotación de la misma acompañada de cambios en su morfología y estructuras vecinas. Se asocia a diversas anomalías congénitas, entre ellas el síndrome de Klippel-Feil. Presentamos el caso de un varón de 5 años de edad con diagnóstico previo de síndrome de VACTERL, que es referido a nuestro servicio y, con ayuda de técnicas radiológicas como la tomografía computarizada y su reconstrucción 2D y 3D, se le identifica deformidad de Sprengel asociada al síndrome de Klippel-Feil.

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“…In a recent study, Nouri et al [1] have reported the demographics, presentation, and symptoms of patients with Klippel Feil Syndrome (KFS), and the authors showed that associated comorbidities including Sprengel deformity may be more common in KFS patients with multilevel cervical fusions. We highly appreciate their work on this important topic.…”

Section: To the Editormentioning

confidence: 99%