Identification and management of high-risk patients with Klippel-Feil syndrome

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

doi:10.3171/jns.1984.61.3.0523

Cited by 96 publications

(64 citation statements)

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“…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%

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: Introductionmentioning

confidence: 99%

Superior odontoid migration in the Klippel–Feil patient

Samartzis

Kalluri²,

Herman

et al. 2006

Eur Spine J

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“…4 El SKF se presenta por falla de segmentación en el esqueleto axial del embrión. 3 Sin embargo, se ha planteado la hipótesis de que puede deberse a la interrupción embrionaria del flujo de las arterias subclavias, vertebrales y/o de sus ramas. 5 Su incidencia se estima en 1/40 000-42 000 nacimientos y predomina en el sexo femenino en 60% de los casos.…”

Section: Discussionunclassified

“…Está caracterizado por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital. 3 La etiología aún no está clara, es muy heterogénea y, en ella, se han involucrado factores ambientales. 3 El objetivo del presente trabajo es describir el caso clínico de un paciente con SKF y múltiples malformaciones asociadas; tres de ellas, no descritas hasta ahora.…”

Section: Introductionunclassified

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Síndrome de Klippel-Feil con fístula traqueoesofágica, pulgar bífido y angiolipoma cerebral

et al. 2016

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RESUMENEl síndrome de Klippel-Feil es una malformación congénita de la charnela cráneo-cervical compleja que involucra vértebras y vísceras, caracterizada por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital. Se presenta por falla de segmentación en el esqueleto axial del embrión. Su incidencia se estima en 1/40 000-42 000 nacimientos y predomina en el sexo femenino. El objetivo del presente trabajo es describir el cuadro clínico de un paciente con síndrome de Klippel-Feil y múltiples malformaciones asociadas, entre ellas, fístula traqueoesofágica, pulgar bífido y lipomas/angiolipomas intracraneales, las cuales, hasta ahora, no han sido descritas en el síndrome, por lo que se considera un hallazgo excepcional. Palabras clave: síndrome de Klippel-Feil, fusión vertebral, fístula traqueoesofágica, pulgar anómalo, angiolipoma. ABSTRACTThe Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding. Síndrome de klippel-feil con fístula traqueoesofágica, pulgar bífido y angiolipoma cerebral Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma INTRODUCCIÓNEl síndrome de Klippel-Feil (SKF) es una malformación congénita de la charnela cráneo-cervical compleja que involucra vértebras y vísceras, de herencia autosómica dominante o recesiva, 1,2 esporádica, con penetrancia reducida y expresión variable. Está caracterizado por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital.3 La etiología aún no está clara, es muy heterogénea y, en ella, se han involucrado factores ambientales. El objetivo del presente trabajo es describir el caso clínico de un paciente con SKF y múltiples malformaciones asociadas; tres de ellas, no descritas hasta ahora. CASO CLÍNICOVarón, producto de un embarazo a término, obtenido por parto vaginal, con peso al nacer de 3200 gramos y talla de 50 centímetros. Exploración física: atrofia de pabellón auricular con agenesia de conducto auditivo externo derecho, fístula traqueoesofágica tipo III y cuello normal. Exámenes de laboratorio, normales. La radiografía de tórax reveló dextrocardia. Al día siguiente, se efectuó la resolución quirúrgica de la fístula traqueoesofágica. Fu...

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“…3 Contrary to commonsense, and often contrary to medical advice, many athletes with CCN return to competition and experience second and third episodes of transient myelopathy; yet, serious spinal cord injury with persisting disability seems to be uncommon. 4 We present the case of a non-athletic young male with non-traumatic, non-progressive, recurrent neurological events in the presence of the K-F anomaly.…”

Section: Introductionmentioning

confidence: 99%

Cervical spinal cord neurapraxia in the setting of Klippel–Feil anomaly: a diagnostic and therapeutic challenge

2006

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Study design: Case report. Setting: Temple University Children's Medical Center in USA. Objectives: To report a patient whose recurrent and transient episodes of quadriplegia mimicked cervical cord neurapraxia. Cervical spine neuroimaging revealed congenital intersegmental fusion of C5 through C7 (consistent with Klippel-Feil anomaly), corresponding abnormal spinal cord signals on T2-weighted images and enhancing focal lesion opposite the C4 vertebral body. A posterior cervical decompression at C4-C5 and lateral mass fixation was performed, and the episodic quadriplegia has not recurred. Conclusion: Understanding of the biomechanics of Klippel-Feil anomaly may facilitate prompt referral for surgical management and avoidance of permanent disability.

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Identification and management of high-risk patients with Klippel-Feil syndrome

Cited by 96 publications

References 38 publications

Superior odontoid migration in the Klippel–Feil patient

Superior odontoid migration in the Klippel–Feil patient

Síndrome de Klippel-Feil con fístula traqueoesofágica, pulgar bífido y angiolipoma cerebral

Cervical spinal cord neurapraxia in the setting of Klippel–Feil anomaly: a diagnostic and therapeutic challenge

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