“Sandwich Deformity” in Klippel-Feil syndrome: A “Full-Spectrum” presentation of associated craniovertebral junction abnormalities

Tian, Yinglun; Fan, Dongwei; Xu, Nanfang; Wang, Shenglin

doi:10.1016/j.jocn.2018.04.047

Cited by 14 publications

(9 citation statements)

References 7 publications

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“…In patients with C2–3 fusion, especially with additional C1 occipitalization, several secondary anomalies include atlantoaxial dislocation, basilar invagination, Chiari malformation, and syringomyelia can be identified. [ 3 , 7 ] Such cases are usually young and present with neurological symptoms, but this case is interesting because it was an elderly person who presented with ROPT. ROPT has been reported with or without atlantoaxial instability[ 1 , 2 , 4 ] [ Table 1 ].…”

Section: Discussionmentioning

confidence: 99%

A case of nonrheumatoid retro-odontoid pseudotumor in Klippel-Feil syndrome with C1 occipitalization

Sakamoto

Uchikado²,

Hanada

et al. 2022

Surgical Neurology International

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Background: Patients with both nonrheumatoid retro-odontoid pseudotumors (ROPTs) and congenital craniocervical junction (CCJ) abnormalities are rare. Here, a 73-year-old female presented with neck pain and myelopathy due to MR-documented ROPT with intramedullary hyperintensity at the CCJ warranting an occipital-cervical fusion. Case Description: A 73-year-old female originally developed occipitalgia and became quadriparetic within the subsequent 7 months. The cervical MR showed a ROPT with intramedullary hyperintensity at the CCJ. Further, the CT demonstrated C1 occipitalization and a congenital C2-3 fusion without radiological instability. After she underwent an occipito-C2 fusion, her symptoms improved. Conclusion: For patients with C1 occipitalization and a Klippel-Feil syndrome, ROPT may occur due to loading of C1-2 complex. These patients typically favorably respond to occipito-C2 fusion.

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Section: Discussionmentioning

confidence: 99%

A case of nonrheumatoid retro-odontoid pseudotumor in Klippel-Feil syndrome with C1 occipitalization

Sakamoto

Uchikado²,

Hanada

et al. 2022

Surgical Neurology International

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“…Futane et al [ 10 ] reported a small caliber right vertebral artery and a persistent left first intersegmental artery in a 26-year-old man with Klippel-Feil syndrome. Tian et al [ 11 ] described a case of a 12-year-old female patient with Klippel-Feil syndrome with a high-riding right vertebral artery at C2. Another report [ 12 ] described a sinuous course of the V3 segment between C1 and C2 due to the ponticulus posticus of C2 in a 68-year-old woman with Klippel-Feil syndrome.…”

Section: Discussionmentioning

confidence: 99%

The Course of the V2 Segment of the Vertebral Arteries in Klippel-Feil Syndrome: A Case Report

Rizvi

Iwanaga

Oskouian

et al. 2018

Cureus

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Klippel-Feil syndrome is a congenital disorder characterized by the fusion of one or more cervical vertebrae leading to limitations in the rotation, extension, and flexion of the neck and possible neurological symptoms. Other abnormalities can also be found in these patients. The anatomy of the vasculature can be abnormal in these patients including variations in the course and origin of the vertebral arteries potentially leading to intra-operative complications. Herein, we report a case of Klippel-Feil syndrome and detail the course of the vertebral arteries in an osteological specimen.

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“…There are numerous spinal deformities described in the literature associated with KFS. Abnormalities of the vertebrae include butterfly vertebrae, block vertebrae, hypoplasia of the vertebrae, osteophytes, intervertebral disc calcification, atlantoaxial dislocation, an absent C1 posterior arch, and deformities of the spinal canal such as spinal stenosis 4,27,[46][47][48][49][50] . Abnormalities of the spinal cord include diastematomyelia and syringomyelia 51,52 .…”

Section: Spinal Abnormalitiesmentioning

confidence: 99%

“…However, studies have shown that ,50% of such patients exhibit the clinical triad findings 2,3 . Clinical findings vary and can include cardiovascular, pulmonary, genitourinary, otolaryngologic (including hearing loss), gastrointestinal, neurologic, and integumentary abnormalities as well as musculoskeletal problems [4][5][6][7][8][9][10][11][12][13][14] .…”

mentioning

confidence: 99%

Klippel-Feil Syndrome

2022

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Klippel-Feil syndrome (KFS) is a rare multisystem constellation of findings with congenital cervical fusion as the hallmark. The etiology is not fully understood.» Recent studies have indicated that KFS is more prevalent than previously described.» Hypermobility in the nonfused segments may lead to adjacent segment disease and potential disc herniation and myelopathy after minor trauma.» Most patients with KFS are asymptomatic and can be managed nonoperatively. Surgical treatment is reserved for patients presenting with pain refractory to medical management, instability, myelopathy or radiculopathy, or severe adjacent segment disease.» Patients with craniocervical abnormalities and upper cervical instability should avoid contact sports as they are at increased risk for spinal cord injury after minor trauma.

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“Sandwich Deformity” in Klippel-Feil syndrome: A “Full-Spectrum” presentation of associated craniovertebral junction abnormalities

Cited by 14 publications

References 7 publications

A case of nonrheumatoid retro-odontoid pseudotumor in Klippel-Feil syndrome with C1 occipitalization

A case of nonrheumatoid retro-odontoid pseudotumor in Klippel-Feil syndrome with C1 occipitalization

The Course of the V2 Segment of the Vertebral Arteries in Klippel-Feil Syndrome: A Case Report

Klippel-Feil Syndrome

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