Scoliosis and Congenital Anomalies Associated With Klippel-Feil Syndrome Types I-III

Thomsen, M.; Schneider, Ulrich; Weber, Michaël; Johannisson, R.; Niethard, Fritz U.

doi:10.1097/00007632-199702150-00008

Cited by 141 publications

(108 citation statements)

References 18 publications

Supporting

Mentioning

101

Contrasting

Unclassified

Order By: Relevance

“…Like several previous reports, our study was comprised of mainly females (70.4%) [19,20,23,38,53]. Evaluating the role of sex-type in association with a historically established marker of 4.5 mm or greater considered as symptomatic SOM, our study had noted that females were associated with a 1.68 greater probability than males in developing such a SOM; however, this may be attributed to the higher incidence of the condition with relation to sex-type in the sample or population.…”

Section: Resultssupporting

confidence: 52%

“…Since the presence of congenital scoliosis has been noted to occur in up to 78% of patients with KFS [25,38,53], this study attempted to evaluate the role of the coronal and lateral cervical alignment and its relationship to the amount of SOM. Although the study did not note a statistically significant association between lateral cervical alignment and the amount of SOM, a statistically significant correlation was noted between the increase in coronal cervical alignment and the increase in SOM.…”

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%

See 2 more Smart Citations

Superior odontoid migration in the Klippel–Feil patient

Samartzis

Kalluri²,

Herman

et al. 2006

Eur Spine J

View full text Add to dashboard Cite

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 ...

show abstract

Section: Resultssupporting

confidence: 52%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Superior odontoid migration in the Klippel–Feil patient

Samartzis

Kalluri²,

Herman

et al. 2006

Eur Spine J

View full text Add to dashboard Cite

show abstract

“…Initially described by Maurice Klippel and Andre Feil, multiple classification systems have been proposed, based on radiographic appearance, neurological symptoms, genetic alterations and intersegmental mobility [9]. Regarding the classification of Klippel and Feil, subtypes include Type I with multiple fused cervical and upper thoracic vertebrae, Type II with fusion of only one or two intervertebral cervical spaces and Type III with both vertebral fusions of the cervical and lumbar or lower thoracic spine [1,10]. Accordingly, KFS in our case could be classified as Type I.…”

Section: Discussionmentioning

confidence: 99%

Surgical treatment in a patient with Klippel–Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature

et al. 2013

View full text Add to dashboard Cite

Introduction Klippel-Feil syndrome (KFS) is considered a rare developmental disorder characterized by mono-or multisegmental fusion of the cervical vertebrae which is frequently associated with diverse non-osseous, e.g. neural, visceral, cardiopulmonary and genitourinary development anomalies. Anterior cervical meningomyelocele (MMC) in KFS has only been described in two previous patients, both with non-surgical treatment. Clnical presentation We present the case of a 26-year-old female suffering from KFS, presenting with progressive bilateral C6 paraesthesias, C7 and C8 motor weakness and myelopathy. Radiological imaging revealed incomplete osseous fusion of the vertebrae C2-Th1. The spinal cord was displaced ventro-caudally through a large anterior MMC, apparently fixed at the dorsal oesophagus, severely stretching the cervical nerve roots. Surgery was indicated due to progression of the symptoms and was performed through a combined partial sternotomy and ventral anterolateral cervical approach. Intraoperatively, both division of oesophago-dural adhesions and intradural untethering of adhesions of the myelon with caudal parts of the cele were performed. Evoked somatosensory potentials improved immediately and 6-day postoperative MRI revealed a nearly complete reposition of the spinal cord in its physiological position. Genetic sequence analyses ruled out mutation of the growth and differentiation factor 6 (GDF6). Apart from slight intermittent paraesthesia, symptoms resolved almost completely within weeks after operation. Both radiological and neurological improvement remained stable at 16 months of follow-up. Conclusion KFS with anterior cervical MMC is rarely seen and may require surgery in case of clincial signs of nerve root compression or myelopathy. Osseous decompression, untethering and adhesiolysis under electrophysiological monitoring can provide sufficient radiological and clinical improvement.

show abstract

“…2 In addition, fusion or anomaly of the vertebrae may be apparent in the thoracic or lumbar spine. KFS is occasionally associated with cleft lip and palate (CLP) and frontonasal malformation.…”

Section: Klippel-feil Syndrome (Kfs) Was First Reported By Klippel Anmentioning

confidence: 99%

Anomaly of cervical vertebrae found on orthodontic examination: 8-year-old boy with cleft lip and palate diagnosed with Klippel-Feil syndrome

Yoshihara¹,

Suzuki²,

Yawaka³

2010

The Angle Orthodontist

View full text Add to dashboard Cite

We incidentally encountered an anomaly of the cervical vertebrae during orthodontic examination of an 8-year-old boy with cleft lip and palate. Klippel-Feil syndrome was diagnosed by the orthopedic specialist to whom he had been referred for detailed examination. This case report shows the results of axial multislice-helical computed tomography with three-dimensional reconstructions of the cervical vertebrae. Furthermore, we evaluated the frequency of congenital anomalies on lateral cephalogram in patients with cleft lip and palate or cleft palate and non-cleft controls from among all patients in our orthodontic clinic. (Angle Orthod. 2010;80:975-980.)

show abstract

Scoliosis and Congenital Anomalies Associated With Klippel-Feil Syndrome Types I-III

Abstract: This study increases knowledge of a wide range of anomalies and syndromes identified in association with Klippel-Feil syndrome. A special finding of the study was a correlation between the degree of scoliosis and Klippel-Feil syndrome Types I, II, and III.

Cited by 141 publications

References 18 publications

Superior odontoid migration in the Klippel–Feil patient

Superior odontoid migration in the Klippel–Feil patient

Surgical treatment in a patient with Klippel–Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature

Anomaly of cervical vertebrae found on orthodontic examination: 8-year-old boy with cleft lip and palate diagnosed with Klippel-Feil syndrome

Contact Info

Product

Resources

About