Multiple Major and Minor Anomalies Associated With Klippel-Feil Syndrome: A Case Report

Stupar, Nada Vujasinovic

doi:10.5606/archrheumatol.2016.5714

Cited by 4 publications

(2 citation statements)

References 10 publications

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“…6 Patients with fusions at the occipitocervical or cervicothoracic junctions are generally expected to have greater disability. 13,14 However, our findings suggest that participants with middle-level fusions, between C2 and C6, tended to report greater levels of overall muscle, joint, and nerve pain, although this did not reach statistical significance. This effect was not explained by the total number of cervical fusions or the severity of the fusions, as patients with middle cervical fusions tended to have fewer overall fusions and a smaller proportion of Samartzis type III fusions compared to participants with upper-or lower-level fusions.…”

Section: Discussioncontrasting

confidence: 73%

Characteristics and management of pain in patients with Klippel-Feil syndrome: analysis of a global patient-reported registry

Patel

Evans

Sommaruga

et al. 2020

Journal of Neurosurgery: Spine

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OBJECTIVEKlippel-Feil syndrome (KFS) is characterized by congenital fusion of the cervical vertebrae. Due to its rarity, minimal research has been done to assess the quality and management of pain associated with this disorder. Using a large global database, the authors report a detailed analysis of the type, location, and treatment of pain in patients with KFS.METHODSData were obtained from the Coordination of Rare Diseases at Stanford registry and Klippel-Feil Syndrome Freedom registry. The cervical fusions were categorized into Samartzis type I, II, or III. The independent-sample t-test, Wilcoxon rank-sum test, and Friedman test were conducted, with significance set at p < 0.05.RESULTSSeventy-five patients (60 female, 14 male, and 1 unknown) were identified and classified as having the following types of Samartzis fusion: type I, n = 21 (28%); type II, n = 15 (20%); type III, n = 39 (52%). Seventy participants (93.3%) experienced pain associated with their KFS. The median age of patients at pain onset was 16.0 years (IQR 6.75–24.0 years), and the median age when pain worsened was 28.0 years (IQR 15.25–41.5 years). Muscle, joint, and nerve pain was primarily located in the shoulders/upper back (76%), neck (72%), and back of head (50.7%) and was characterized as tightness (73%), dull/aching (67%), and tingling/pins and needles (49%). Type III fusions were significantly associated with greater nerve pain (p = 0.02), headache/migraine pain (p = 0.02), and joint pain (p = 0.03) compared to other types of fusion. Patients with cervical fusions in the middle region (C2–6) tended to report greater muscle, joint, and nerve pain (p = 0.06). Participants rated the effectiveness of oral over-the-counter medications as 3 of 5 (IQR 1–3), oral prescribed medications as 3 of 5 (IQR 2–4), injections as 2 of 5 (IQR 1–4), and surgery as 3 of 5 (IQR 1–4), with 0 indicating the least pain relief and 5 the most pain relief. Participants who pursued surgical treatment reported significantly more comorbidities (p = 0.02) and neurological symptoms (p = 0.01) than nonsurgically treated participants and were significantly older when pain worsened (p = 0.03), but there was no difference in levels of muscle, joint, or nerve pain (p = 0.32); headache/migraine pain (p = 0.35); total number of cervical fusions (p = 0.77); location of fusions; or age at pain onset (p = 0.16).CONCLUSIONSMore than 90% of participants experienced pain. Participants with an increased number of overall cervical fusions or multilevel, contiguous fusions reported greater levels of muscle, joint, and nerve pain. Participants who pursued surgery had more comorbidities and neurological symptoms, such as balance and gait disturbances, but did not report more significant pain than nonsurgically treated participants.

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Section: Discussioncontrasting

confidence: 73%

Characteristics and management of pain in patients with Klippel-Feil syndrome: analysis of a global patient-reported registry

Patel

Evans

Sommaruga

et al. 2020

Journal of Neurosurgery: Spine

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“…Klippel-Feil syndrome (KFS) is characterized by the congenital fusion of a variable number of cervical vertebrae (Vujasinovic Stupar et al 2015), in the majority of cases accompanied by other abnormalities in different apparatuses, including otorhinolaryngological and craniofacial ones (Clarke et al 1998).…”

Section: Introductionmentioning

confidence: 99%

Klippel-Feil Syndrome: morphological findings in a 19th-century musealized skull from Viana del Bollo (Orense, Spain)

López

Dorado

Galassi

et al. 2022

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The aim of this study is to show the cranial alterations that Klippel-Feil syndrome produced in a case older than 200 years. Few paleopathological case studies diagnosed as Klippel-Feil Syndrome are focused on cranial abnormalities. A skull numbered 778, belonging to the Federico Olóriz Aguilera collection (Spain, 19th century AD), Universidad Complutense de Madrid, belonging to a young man born in a town in the North of Spain, was investigated. This cranium was visually inspected, hence macroscopically and paleoradiologically studied, using the images obtained through conventional radiology and CT scan imaging. In addition to the vertebral fusion between the atlas (C1) and the axis (C2), atlanto-occipital fusion, basilar impression, obliteration of the sagittal suture, enlarged parietal foramina and significant craniofacial asymmetry affecting maxillary bones, sphenoid, orbits, nasal bones and both palatines were observed. Morphological findings make it possible to diagnose a Klippel-Feil syndrome, possibly type-II, although the lack of the rest of the spinal column renders it impossible to verify other spinal anomalies. As a limitation, only the cranium and two cervical vertebrae were preserved, hence the possible involvement of the rest of the skeleton cannot be verified.

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Congenital Cervical Anomalies in Athletes

Pittman

Weng

Theiss

et al. 2019

Spinal Conditions in the Athlete

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Multiple Major and Minor Anomalies Associated With Klippel-Feil Syndrome: A Case Report

Cited by 4 publications

References 10 publications

Characteristics and management of pain in patients with Klippel-Feil syndrome: analysis of a global patient-reported registry

Characteristics and management of pain in patients with Klippel-Feil syndrome: analysis of a global patient-reported registry

Klippel-Feil Syndrome: morphological findings in a 19th-century musealized skull from Viana del Bollo (Orense, Spain)

Congenital Cervical Anomalies in Athletes

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