Klippel-Feil syndrome in children: clinical features and management

Nagib, Mahmoud G.; Maxwell, Robert E.; Chou, Shelley N.

doi:10.1007/bf00272022

Cited by 59 publications

(34 citation statements)

References 72 publications

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“…Various classification systems have attempted to elaborate upon the epidemiology and risk of neurologic injury in the KFS patient [8,15,20,22,37,38,45]. In our study, the authors utilized a classification system specific to the cervical spine as proposed by Guille et al [20] and Samartzis et al [45] in the adult and developing child, respectively.…”

Section: Resultsmentioning

confidence: 99%

“…This developmental condition is uncommon and believed to occur in 1 in 40,000-42,000 births [22,26]. Various spinal and extraspinal anomalies have been associated with KFS, but vary between individuals [10,23,25,36,37,44,46,53]. Moreover, up to 68% of KFS patients, primarily noted in adulthood, report symptoms related to their syndrome [2,20,43,44,46].…”

Section: Introductionmentioning

confidence: 99%

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Superior odontoid migration in the Klippel–Feil patient

Samartzis

Kalluri²,

Herman

et al. 2006

Eur Spine J

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Klippel-Feil syndrome (KFS) is an uncommon condition noted primarily as congenital fusion of two or more cervical vertebrae. Superior odontoid migration (SOM) has been noted in various skeletal deformities and entails an upward/vertical migration of the odontoid process into the foramen magnum with depression of the cranium. Excessive SOM could potentially threaten neurologic integrity. Risk factors associated with the amount of SOM in the KFS patient are based on conjecture and have not been addressed in the literature. Therefore, this study evaluated the presence and extent of SOM and the various risk factors and clinical manifestations associated therein in patients with KFS. Twenty-seven KFS patients with no prior history of surgical intervention of the cervical spine were included for a prospective radiographic and retrospective clinical review. Radiographically, McGregor's line was utilized to evaluate the degree of SOM. Anterior and posterior atlantodens intervals (AADI/PADI), number of fused segments (C1-T1), presence of occipitalization, classification-type, and lateral and coronal cervical alignments were also evaluated. Clinically, patient demographics and presence of cervical symptoms were assessed. Radiographic and clinical evaluations were conducted by two independent blinded observers. There were 8 males and 19 females with a mean age of 13.5 years at the time of radiographic and clinical assessment. An overall mean SOM of 5.0 mm (range = -1.0 to 19.0 mm) was noted. C2-C3 (74.1%) was the most commonly fused segment. A statistically significant difference was not found between the amount of SOM to age, sex-type, classification-type, AADI, PADI, and lateral cervical alignment (P > 0.05). A statistically significant greater amount of SOM was found as the number of fused segments increased (r = 0.589; P = 0.001) and if such levels included occipitalization (r = 0.616; P = 0.001). A statistically significant greater amount of SOM was also found with an increase in coronal cervical alignment (r = 0.413; P = 0.036). Linear regression modeling further supported these findings as the strongest predictive variables contributing to an increase in SOM. A 7.20 crude relative risk (RR) ratio [95% confidence interval (CI) = 1.05-49.18; risk differences (RD) = 0.52] was noted in contributing to a SOM greater than 4.5 mm if four or more segments were fused. Adjusting for coronal cervical alignment greater than 10°, five or more fused segments were found to significantly increase the RR of a SOM greater than 4.5 mm (RR = 4.54; 95% CI = 1.07-19.50; RD = 0.48). The RR of a SOM greater than 4.5 mm was more pronounced in females -006-0280-z (RR = 1.68; 95% CI = 0.45-6.25; RD = 0.17) than in males. Eight patients (29.6%) were symptomatic, of which symptoms in two of these patients stemmed from a traumatic event. However, a statistically significant difference was not found between the presence of symptoms to the amount of SOM and other exploratory variables (P > 0.05). A mean SOM of 5.0 mm was found in our ...

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Superior odontoid migration in the Klippel–Feil patient

Samartzis

Kalluri²,

Herman

et al. 2006

Eur Spine J

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“…Many authors have reported sudden quadriplegia or death in patients with Klippel-Feil syndrome following minor trauma [2,7]. This is probably a result of the fused segments and the resultant altered mechanical force transfer that makes the adjacent, nonfused segments hypermobile [5].…”

Section: Discussionmentioning

confidence: 99%

“…Potentially crippling or fatal subluxations may occur at these levels [13]. Some authors recommend prophylactic arthrodesis in patients with cervical instability [7].…”

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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“…[20] Klippel-Feil syndrome usually occurs in conjunction with a number of different anomalies, the frequency of which largely depends on patient selection. The most common abnormalities associated with KFS are skeletal anomalies (such as Sprengel's deformity, basilar invagination, skull asymmetry, and scoliosis), hearing impairment, congenital heart diseases, ocular malformations, cranial and facial asymmetry, cleft palate, [21,37,38] genitourinary malformations, [45] and mirror movements. [22,50,62] Other rare associations reported to occur in conjunction with KFS include partially or completely split cervical cord, [9] anomalous rib, [48] neurenteric cyst, [61] neurenteric fistula that causes recurrent meningitis, [19] and dermoid cyst.…”

mentioning

confidence: 99%

The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology

David¹,

Thorogood²,

Stevens³

et al. 1999

FOC

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The authors conducted a study to identify radiological patterns of Klippel-Feil syndrome (KFS), and they present a new interpretation of the origin of these patterns based on recent advances in understanding of embryonic development of the spine and its molecular genetic control. The authors studied radiographs and computerized tomography (CT) scans as well as magnetic resonance images or CT myelograms obtained in 30 patients with KFS who were referred for treatment between 1982 and 1996; the patients had complained of various neuroorthopedic complications. Homeotic transformation due to mutations or disturbed expression of Hox genes is a possible mechanism responsible for C-1 assimilation, which was found to have occurred in 19 cases (63%). Notochordal defects and/or signaling problems, which result in reduced or impaired Pax-1 gene expression, may underlie vertebral fusions. This, together with asymmetrical distribution of paraxial mesoderm cells and a possible lack of communication across the embryonic midline, could cause asymmetrical fusion patterns, which were present in 17 cases (57%). The wide and flattened shape of the fused vertebral bodies and their resemblance to the embryonic cartilaginous vertebrae as well as the process of progressive bone fusion with age suggest that the fusions occur before or, at the latest, during chondrification of vertebrae. The authors suggest that the aforementioned mechanisms are likely to be, at least in part, responsible for the observed patterns in KFS that affect the craniovertebral junction and the cervical spine.

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Klippel-Feil syndrome in children: clinical features and management

Cited by 59 publications

References 72 publications

Superior odontoid migration in the Klippel–Feil patient

Superior odontoid migration in the Klippel–Feil patient

Cervical arthroplasty in a patient with Klippel-Feil syndrome

The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology

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