The Klippel-Feil Syndrome: Genetic and Clinical Reevaluation of Cervical Fusion

Gunderson, Carl H.; Greenspan, Richard H.; Glaser, Gilbert H.; Lubs, Herbert A.

doi:10.1097/00005792-196711000-00003

Cited by 192 publications

(96 citation statements)

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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%

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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%

“…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].…”

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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“…Klippel-Feil syndrome involves the congenital fusion (failure of segmentation) of one or more cervical motion segments, and most patients have associated congenital anomalies of the cervical spine or other organs and systems. These anomalies may occur at the craniocervical junction (occipit-C2), the subaxial spine (below C2), or both (11). In our case have multiple developmental anomalies of the upper cervical spine consistent with KlippelFeil syndrome.…”

Section: Discussionmentioning

confidence: 54%

Klippel - Feil Syndrome Associated with Atrial Septal Defect

Bejiqi

Retkoceri

Bejiqi

et al. 2013

Med Arh

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“…The C2-C3 or C5-C6 fusion is an autosomal dominant disorder and thoracic or lumbar fusion is an autosomal recessive disorder. 8 Acquired fusion of vertebrae may be differentiated from congenital anomalies by a history of trauma or infection and by x-ray evidence of degeneration of the involved functional spinal unit. 9 Whereas, congenital fusions are characterized by absence of the intervertebral disc, or its replacement by a radio-opaque line; the "wasp-waist" appearance; smooth intervertebral foramina; a single spinous process for two vertebral bodies; and maintenance of vertebral body height on roentgenologic examination.…”

Section: Resultsmentioning

confidence: 99%

Incidence of Block Vertebrae in South Indians: An Osteometric Study

Soni¹,

Sreekanth²,

Nayak³

et al. 2014

jemds

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BACKGROUND: Fusion of consecutive vertebral segments results in block vertebrae or vertebral synostosis or spinal fusion. The fusion may be complete or incomplete involving the bodies of the vertebrae alone or along with vertebral arch. It affects most commonly the cervical region, followed by thoracic and lumbar regions. AIM: The present study was aimed to assess the incidence of block vertebrae in south Indian population. METHODS AND MATERIAL: We examined a total of 2400 fully ossified dried vertebrae collected for a period of 4 years in Department of Anatomy, Dr. VRK Women's Medical College. RESULTS AND CONCLUSIONS: The study revealed 6 different specimens of block vertebrae, with 4 cervical, 1 cervico-thoracic and 1 thoracic vertebral synostosis. The features of these block vertebrae were analysed in detail and photographed from different aspects. The total incidence of block vertebrae was found to be 0.25%. The embryological significance and clinical implications of block vertebrae at various levels have been discussed in this paper.

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The Klippel-Feil Syndrome: Genetic and Clinical Reevaluation of Cervical Fusion

Cited by 192 publications

References 0 publications

Superior odontoid migration in the Klippel–Feil patient

Superior odontoid migration in the Klippel–Feil patient

Klippel - Feil Syndrome Associated with Atrial Septal Defect

Incidence of Block Vertebrae in South Indians: An Osteometric Study

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