Developmental Anomalies of the Cervical Spine in Patients With Fibrodysplasia Ossificans Progressiva Are Distinctly Different From Those in Patients With Klippel-Feil Syndrome

Schaffer, Alyssa A.; Kaplan, Frederick S.; Tracy, Michael R.; O'Brien, Megan L.; Dormans, John P.; Shore, Eileen M.; Harland, Richard M.; Kusumi, Kenro

doi:10.1097/01.brs.0000166619.22832.2c

Cited by 90 publications

(62 citation statements)

References 37 publications

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“…Congenital malformation of the great toes ( Figure 1) is the earliest phenotypic feature of FOP [9][10][11]. This is the most recognizable skeletal feature of FOP, although other subtle skeletal changes (such as cervical spine fusions, short/broad femoral necks, and osteochondromas) also commonly occur [12][13][14].…”

Section: Clinical Description and Diagnostic Criteria For Classic Fopmentioning

confidence: 99%

Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP)

Shore

Kaplan

2008

Bone

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113

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Fibrodysplasia ossificans progressiva (FOP) is a rare human genetic disorder of extensive and debilitating extra-skeletal bone formation. While the challenges of investigating a rare condition are many, the potential benefits are also great -not only for the specific disease under investigation, but also for the unique perspective on how cells normally function and the mechanisms that underlie more common disorders. This review will illustrate some of the many insights that we have gained by studying FOP.

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Section: Clinical Description and Diagnostic Criteria For Classic Fopmentioning

confidence: 99%

Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP)

Shore

Kaplan

2008

Bone

Self Cite

113

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“…We agree that the Bryan disc would be an ideal arthroplasty device in the future if it has an internal stop mechanism not permitting hypermobility. We believe that arthroplasty of restricted segments should be used in selective cases of Klippel-Feil syndrome but should not be performed when the disease is pathologically progressing to spondylosis or fusion in multiple segments, such as occurs in fibrodysplasia ossificans progressiva [10]. Although long-term follow-up results of this patient are required (at 5 years), we suggest that this procedure is preferable to arthrodesis for selected cases of Klippel-Feil syndrome with symptomatic cervical disc disease.…”

Section: Discussionmentioning

confidence: 99%

Cervical arthroplasty in a patient with Klippel-Feil syndrome

Yi¹,

Kim

Shin

et al. 2007

Acta Neurochir (Wien)

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SummaryThis is the first published report of a patient with KlippelFeil syndrome treated with cervical arthroplasty. A 36-year-old man presented with posterior neck pain and myelopathic symptoms. A radiograph demonstrated congenital fusion of the vertebral bodies at C2-3, C4-5 and C5-6. On MRI, the spinal cord was compressed by a protruding cervical disc and bony spurs at C6-7. After anterior discectomy and decompression of the spinal cord at the C6-7 level, the disc was replaced with the Bryan cervical disc system (Medtronic Sofamor Danek, Memphis, TN, USA) to restore normal motion. The absence of adjacent segment degeneration and the preservation of cervical motion were noted 2 years after surgery. Arthroplasty may be performed in selected patients with Klippel-Feil syndrome in order to restore motion and to prevent degeneration of the adjacent segment by reducing hypermobility.

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“…FOP also results in cervical spine abnormalities which appear as large posterior elements, tall narrow vertebral bodies, and fusion of the facet joints between C2 and C7 [8]. The cervical spine often becomes ankylosed early in life ( fig.…”

Section: Fig 1[5]mentioning

confidence: 99%

A Brief Overview of the Very Rare Fibrodysplasia Ossificans Progressiva (Stone Man Syndrome)

Sri¹

2018

J Crit Rev

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Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disorder with only about 800 million people affected worldwide. It occurs as a result of the mutation in Activin A receptor type 1 (ACVR1) gene leading to extraskeletal structure formation which further gradually progresses to skeletal deformities and premature death. This disorder is also known as stone man syndrome as it causes joints to become frozen resulting in mobility impairment. It is generally identified in early childhood and affects almost every organ. Though there is no approved treatment for this rare disorder, researchers are in progress. Supportive therapy and care can help the patients to some extent by providing temporary relief. In this review, we will briefly outline the information regarding FOP which is difficult to diagnose and whose misdiagnosis is dangerous.

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Developmental Anomalies of the Cervical Spine in Patients With Fibrodysplasia Ossificans Progressiva Are Distinctly Different From Those in Patients With Klippel-Feil Syndrome

Abstract: FOP patients exhibit a characteristic set of congenital spine malformations. While the noggin gene (NOG) is not mutated in patients who have FOP, these findings extend a growing body of evidence implicating overactivity of the BMP signaling pathway in the molecular pathogenesis of FOP.

Cited by 90 publications

References 37 publications

Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP)

Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP)

Cervical arthroplasty in a patient with Klippel-Feil syndrome

A Brief Overview of the Very Rare Fibrodysplasia Ossificans Progressiva (Stone Man Syndrome)

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