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.

Cambridge, MA, USA.
The Spine Journal (Impact Factor: 2.43). 7(1):135-7.
Source: PubMed
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    ABSTRACT: A retrospective study. 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). 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. 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. There were 11 males (36.7%) and 19 females (63.3%) with a mean age of 13.5 years (range, 2.7-26.3 years). Occipitalization was present in 10 (33.3%) individuals and C2-C3 was the most common level fused (70.0%). The mean number of congenitally fused segments was 3.3 (range, 1-6 levels). The mean degree of cervical scoliosis was 17.3 degrees (range, 0 degrees-67 degrees). There were 6 (20%) Type I, 15 Type II (50.0%), and 9 Type III (30%) patients. SD was noted in 5 (16.7%) of the patients. Four patients had unilateral, whereas 1 patient had bilateral SD. There was 4.0 and 3.1 mean number of congenitally fused segments in patients with or without SD, respectively. SD did not occur in Type I patients (single fused block). The presence of SD was found to be nonsignificant regarding sex type (P = 0.327), presence of occipitalization (P = 0.300), number of congenitally fused segments (P = 0.246), specific congenitally fused segments (P > 0.05), classification type (P > 0.05), and scoliosis (P = 0.702). 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.
    Spine 08/2007; 32(18):E512-6. DOI:10.1097/BRS.0b013e318133fcf8 · 2.30 Impact Factor
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    ABSTRACT: A prospective radiographic and retrospective clinical chart review. This study evaluated the role of congenitally fused cervical segments in relation to the space available for the cord (SAC) and associated cervical spine-related symptoms (CSS) in patients with Klippel-Feil Syndrome (KFS). KFS is a developmental disorder presenting with congenital fusion of at least 2 cervical vertebrae. The effects of congenitally fused cervical segments in relation to the SAC and associated symptoms in KFS patients remain speculative and have not been thoroughly addressed in the literature. At a single institution, a prospective radiographic and clinical evaluation of 29 KFS patients was conducted. Based on plain radiographs, assessment of the SAC consisted of the posterior atlantodens interval, the midvertebral body SAC (C2-C7), and the interbody SAC (C2-C3-C7-T1). Vertebral body width (VBW) from C2 to C7 and the presence of occipitalization (O-C1) were also noted. Torg ratios were obtained at each level. Demographics, medical history, and the presence of CSS were noted based on clinical chart review. Ten males and 19 females were reviewed (mean age, 13.4 years). A significant correlation was noted between the overall VBWs to the number of fused segments, age, and skeletal maturity (P < 0.05), but not to sex-type, O-C1, and SAC levels (P > 0.05). In the presence of a fused segment, individualized SAC levels tended to have greater canal dimensions and cephalad/caudal VBWs were less. Cephalad and caudal Torg ratios in relation to a segment were greater in all fused segments, and with 4 or greater fused segments (P < 0.05). Number of levels fused, sex-type, skeletal maturity, and O-C1 were not significantly associated with the presence of symptoms (P > 0.05). Symptomatic patients had smaller VBWs than nonsymptomatic patients (P = 0.027) and an overall decrease in SAC at the interbody disc level, primarily at C6-C7 (P > 0.05). Smaller Torg ratios were noted in symptomatic patients, specifically myelopathic patients. Congenital fusion in KFS may arrest the normal vertebral development, which may affect appositional bone growth. Such effects on the VBW could potentially contribute to an increase in the SAC. Such a development may delay neurologic compromise stemming from the congenital fusion process and subsequent degenerative manifestations.
    Spine 07/2008; 33(13):1442-50. DOI:10.1097/BRS.0b013e3181753ca6 · 2.30 Impact Factor
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    ABSTRACT: Retrospective radiographic review. To evaluate in patients with Klippel-Feil syndrome (KFS) the presence and extent of specific fusion patterns across involved cervical segments and their association with age-specific parameters. While the radiographic hallmark of KFS is characterized by congenital fusion of at least one cervical motion segment, the relation between age and the extent of segmental congenital fusion remains speculative. A radiographic review of 31 patients with KFS at a single institution. Plain radiographs were used to assess fusion across the vertebral segment as entailing the anterior elements, posterior elements, or complete segment from O-T1. Age-specific stratifications were also performed. A mean of 3.7 fused segments and a sum of 116 fused segments were noted. From C2-T1, complete fusion of the involved segment represented 77.8% at 10 years or older, 87.5% at 15 years or older, 91.7% at 16 years or older, 95.7% at 17 years or older, 86.5% who were skeletally mature, and 100% at adulthood. Similar trends were not noted for segments of O-C2. In absence of complete segmental fusion, the posterior elements exhibited a higher incidence of fusion than the anterior elements. Statistically significant differences between anterior/posterior to complete segmental fusion with respect to different age markers entailed segments of C2-C3, C4-C5, and C6-C7 (P < 0.05). This study provides some insight into the potential developmental aspects of the extent of segmental fusion of the cervical spine in patients with KFS. In older patients, complete fusion of involved fused segments was more prevalent in regards to C2-T1; however, such an observation was not noted for segments from O-C2. In the absence of complete segmental fusion, fusion of the posterior elements was more often noted than fusion of the anterior elements. Awareness of the varied phenotypic expression of segmental fusion patterns of the cervical spine in patients with KFS underlines theimportance of thorough evaluation of the cervical spine to assess the presence and extent of segmental fusion to facilitate in the identification of neurologic risk factors.
    Spine 08/2008; 33(15):1637-42. DOI:10.1097/BRS.0b013e31817c0bc2 · 2.30 Impact Factor
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