'Clinical Triad' findings in Klippel-feil patients

E-Poster - Congenital Deformity: no. 530It has been propagated that Klippel-Feil Syndrome (KFS) is associated with the clinical triad findings (CTF) of short neck, low posterior hairline, and limited range of motion. This study noted that CTFs are not consistently noted in KFS patients. KFS patients with extensive congenitally fused cervical segments were more likely to exhibit one of the components of CTF.postprin

"Bone block" and congenital spine deformity

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"Bone block" and congenital spine deformity

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Classification of congenitally fused cervical patterns in Klippel-Feil patients: Epidemiology and role in the development of cervical spine-related symptoms

STUDY DESIGN. A retrospective cohort and series review. OBJECTIVES. To determine the role of cervical spine fusion patterns on the development of cervical spine-related symptoms (CSS) in patients with Klippel-Feil syndrome (KFS) and evaluate age- and time-dependent factors that may contribute to fused cervical patterns and the development of the CSS. SUMMARY OF BACKGROUND DATA. Although the "hallmark" of KFS is the presence of congenitally fused cervical vertebrae, the epidemiology and role of specific cervical fused patterns are limited. In addition, the incidence of symptoms and various age- and time-dependent factors that are directly attributed to the congenitally fused cervical segments in KFS patients is unknown. METHODS. A radiographic and clinical review of 28 KFS patients at a single institution. Radiographically, Type I patients were defined as having a single congenitally fused cervical segment. Type II patients demonstrated multiple noncontiguous, congenitally fused segments, and Type III patients had multiple contiguous, congenitally fused cervical segments. Clinical records were reviewed for patient demographics, presence and type of symptoms, and clinical course. RESULTS. Twelve males and 16 females were reviewed for clinical follow-up (mean, 8.5 years) and radiographic assessment (mean, 8.0 years). The mean age at presentation was 7.1 years; mean age of onset of CSS was 11.9 years. Clinically, 64% had no complaints referable to their cervical spine. Radiographically, 25%, 50%, and 25% were Type I, Type II, and Type III, respectively. At final clinical follow-up, 2 patients were myelopathic (Type II and Type III) and 2 were radiculopathic (Type II and Type III). Type III patients were largely asymptomatic but were associated with the highest risk in developing radiculopathy or myelopathy than Type I or Type II patients. Axial symptoms were predominantly associated with Type I patients. Myelopathic patients developed initial CSS earlier (meanage, 10.6 years) than patients with predominant axial (mean age, 13.0 years) or radiculopathic symptoms (mean age, 18.6 years) (P > 0.05). Patients with radiculopathy or myelopathy were diagnosed at a mean age of 17.9 years. Type I patients were predominantly females, while males were largely Type III. Surgery entailed 11% of patients, composed of 2 myelopathic patients (Type II and Type III) and 1 radiculopathic patient (Type II). CONCLUSIONS. In our review, 36% of KFS patients had CSS and the majority had axial symptoms. Axial neck symptoms were highly associated with Type I patients, whereas predominant radicular and myelopathic symptoms occurred in Type II and Type III patients. This classification system has promise for early detection for CSS. Activity modification should be stressed in KFS patients at high risk for neurologic compromise. © 2006 Lippincott Williams & Wilkins, Inc.link_to_subscribed_fulltex

Sprengel's deformity in Klippel-Feil syndrome

STUDY DESIGN. A retrospective study. OBJECTIVES. To address the role of congenitally fused cervical segments, the degree of cervical scoliosis, and other risk factors on the presence of Sprengel's deformity (SD) in young patients with Klippel-Feil syndrome (KFS). SUMMARY OF BACKGROUND DATA. Numerous abnormalities are associated with KFS, one of the most common being SD. It has been postulated that more severe forms of KFS may be more associated with extraspinal manifestations, such as SD. METHODS. Thirty KFS patients from a single institution were reviewed. Cervical neutral lateral/dynamic/ anteroposterior and thoracic anteroposterior plain radiographs were assessed. Radiographically, occipitalization (O-C1), number of congenitally fused segments (C1-T1), classification type (Types I-III), degree of cervical scoliosis, and the presence of SD was assessed. Clinical chart review entailed patient demographics and evidence of the clinical assessment of SD. The threshold for statistical significance was P 0.05), classification type (P > 0.05), and scoliosis (P = 0.702). CONCLUSION. SD occurred in 16.7% of KFS patients. Sex type, number of congenitally fused segments, specific fused patterns, occipitalization, classification type, and the degree of cervical scoliosis did not seem to be significantly associated with the presence of SD in KFS patients in our series. Thorough examination for the presence and degree of SD in KFS is necessary, irrespective of the extent of cervical abnormalities. Alternatively, the treating physician should not dismiss a thorough cervical spine examination in patients with SD, evaluating factors that may predispose the KFS patient to an increased risk of neurologic injury. © 2007 Lippincott Williams & Wilkins, Inc.link_to_subscribed_fulltex

Faces of Spine Care: From the Clinic and Imaging Suite. Klippel-Feil syndrome and associated abnormalities: the necessity for a multidisciplinary approach in patient management.

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Radiographic assessment of segmental motion at the atlantoaxial junction in the Klippel-Feil patient

Study Design. A retrospective review of 33 consecutive Klippel-Feil syndrome (KFS) patients at a single institution. Objectives. To assess in KFS patients the presence and degree of radiographic segmental motion at the atlanto-axial junction, factors contributing to such motion, and associated clinical manifestations. Summary of Background Data. Studies suggest that abnormal segmentation in KFS patients may result in cervical hypermobility, increasing the risk of developing neurologic compromise and the need for surgical intervention. The use of the anterior and posterior atlantodens interval (AADI/PADI) has gained interest as a method for assessing atlantoaxial instability and for space available for the cord. Although helpful for identifying instability after trauma, these measurements are not understood in KFS patients. In addition, the effects of the fusion process associated with KFS on atlantoaxial motion and associated clinical findings have not been properly addressed. Methods. Radiographs were analyzed for the presence of occipitalization, number/location of congenially fused segments, and the AADI and PADI. Results. There were 15 males and 18 females (mean age, 13.9 years). Occipitalization occurred in 48.5% of patients. A fused C2-C3 segment was noted in 72.7% of cases. More motion with respect to AADI was evident on O-C1 and C2-C3 fusion only patients, which were all asymptomatic. Overall, 24.2% of patients were symptomatic. Mean AADI and PADI difference was 2.0 mm (symptomatic: mean, 1.5 mm; asymptomatic: mean, 2.1 mm) and -1.7 mm (symptomatic: mean, -1.0 mm; asymptomatic: mean, -2.0 mm), respectively (P > 0.05). Conclusions. Hypermobility of the atlantoaxial junction, as indicated by increased AADI on flexion-extension radiographs, is not necessarily associated with an increased risk for the development of symptoms or neurologic signs in the KFS patient. Occipitalization plays an integral role in the degree of motion at the atlantoaxial region. Greatest AADI values were in patients with occipitalization and a fused C2-C3 segment. The presence of symptoms was not related to the degree of AADI change. Evaluation of the PADI provides additional information for identifying patients at risk for developing symptoms. Nonetheless, KFS patients remain largely asymptomatic. ©2006, Lippincott Williams & Wilkins, Inc.link_to_subscribed_fulltex

Faces of spine care: from advanced imaging. Severe thoracic kyphoscoliosis in a Klippel-Feil patient with complete cervical spine fusion and deformity--primum non nocere.

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Cervical scoliosis in the klippel-feil patient

Study Design.: Retrospective study. Objective.: This study addressed in patients with Klippel-Feil syndrome (KFS), the role of congenitally fused cervical patterns, risk factors, and cervical symptoms associated with cervical scoliosis. Summary of Background Data.: KFS is an uncommon condition, characterized as improper segmentation of one or more cervical spine segments with or without associated spinal or extraspinal manifestations. "Scoliosis" is potentially the most common manifestation associated with KFS. However, the role of congenitally fused cervical patterns along with additional potential risk factors and their association with cervical scoliosis, and its relationship with cervical spine-related symptoms remain largely unknown. Methods.: Plain radiographs were utilized to assess the location of congenitally fused cervical segments (O-T1), degree of coronal cervical alignment, and any additional cervical and thoracic spine abnormalities. The classification scheme, as proposed by Samartzis et al of congenitally fused cervical patterns (Types I-III) in KFS patients, was utilized and additional fusion and region-specific patterns were assessed. Patients with coronal cervical alignments of 10° or greater were regarded scoliotic. Patient demographics and the presence of cervical spine-related symptoms were also assessed. Results.: Thirty KFS patients were assessed (mean age, 13.5 yr). The mean coronal cervical alignment was 18.7° and scoliosis was noted in 16 patients. Patients that exhibited congenital fusion of the mid and lower cervical spine region, had multiple, contiguous congenitally fused segments (Type III), and associated vertebral malformations (e.g., hemivertebrae) were highly associated with the presence of cervical scoliosis (P < 0.05). Ten patients exhibited cervical spine-related symptoms; however, no statistically significant difference was noted between the presence of symptoms and coronal cervical alignment (P = 0.815) and cervical scoliosis (P = 0.450). Conclusion.: The study noted a prevalence of cervical scoliosis to occur in 53.3% of young KFS patients. Such patients that exhibited congenital fusion of the mid and lower cervical spine region, had multiple, contiguous congenitally fused segments (Type III), and associated vertebral malformations (e.g., hemivertebrae) were highly associated with the presence of cervical scoliosis. However, in young KFS patients, the presence of cervical scoliosis may not be associated with the manifestation of cervical spine-related symptoms. Copyright © 2011 Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.link_to_subscribed_fulltex

Symptomatic cervical disc herniation in a pediatric Klippel-Feil patient: The risk of neural injury associated with extensive congenitally fused vertebrae and a hypermobile segment

Study Design. A case report. Objective. To report the occurrence of a herniated cervical disc following a high-impact activity in a pediatric Klippel-Feil patient who presented with spinal cord compression, myelopathy, and myelomalacia requiring posterior instrumented fusion followed by an anterior discectomy and fusion at the hypermobile nonfused segment. Summary of Background Data. The primary hallmark of Klippel-Feil syndrome (KFS) is the presence of at least one congenially fused cervical segment. Studies have reported the potential risk of cervical injury from hypermobility associated with the nonfused cervical segment in KFS. The manifestation of a cervical disc herniation in the pediatric KFS patient is rare. To the authors' knowledge, the development of a symptomatic cervical herniated disc attributed to mechanical fatigue following a high-impact activity has not been addressed in the literature with respect to the pediatric KFS patient having extensive cervical fusion and a hypermobile segment. Methods. A 16.8-year-old KFS boy with occipitalization of C1 and fusion of C2-C3 and C4-T1 presented with myelopathy, severe cord compression, and myelomalacia stemming from a left-sided herniated cervical disc at C3-C4 with onset following an 8-foot high rooftop jump. On radiographic evaluation, the patient's C3-C4 segment was hypermobile. Results. The patient was operatively managed via a same-day combined posterior-anterior procedure. The posterior aspect of the procedure entailed a posterior lateral mass plate-screw fixation at C3-C4 with autologous iliac crest bone fusion. Anteriorly, a discectomy was performed at C3-C4 with application of an interbody tricortical autograft. After surgery, the patient wore a halo vest for 3 months, followed by a soft collar for an additional 3 months. On final follow-up at 39 months, the patient was asymptomatic with no instrumentation-related complications, fusion of the posterior graft-bed and anterior interbody graft was noted, and cervical alignment was maintained. Conclusions. A hypermobile segment in the pediatric KFS patient is a risk factor that may lead to cord compression. A symptomatic herniated cervical disc may develop from an excessive mechanical load stress in a pediatric KFS patient with multiple fused segments. In such a patient, a same-day combined posterior-anterior procedure provides cord decompression and stabilizes the spine with a favorable outcome. ©2006, Lippincott Williams & Wilkins, Inc.link_to_subscribed_fulltex