Klippel-Feil Syndrome

Tracy, Michael R.; Dormans, John P.; Kusumi, Kenro

doi:10.1097/01.blo.0000130267.49895.20

Cited by 210 publications

(59 citation statements)

References 32 publications

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“…Two children had bilateral involvement; all but 2 children were diagnosed with VACTERL Association 34 ; 1 child with VACTERL and bilateral involvement also had Klippel-Feil syndrome 35 . Pollicization was performed between 1994 and 2010 by a single surgeon at a single hospital using the modified Buck-Gramcko technique 36 .…”

Section: Methodsmentioning

confidence: 99%

Long term functional outcomes after early childhood pollicization

Lightdale-Miric

Mueske

Lawrence

et al. 2015

Journal of Hand Therapy

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Study Design Retrospective Cohort Introduction Pollicization creates a thumb from another finger to treat hypoplasia/aplasia. Important outcomes include strength, function, dexterity, and quality of life. Purpose of the Study To evaluate mid- to long-term outcomes and examine predictors of outcome after early childhood pollicization. Methods 8 children who underwent 10 pollicizations (age at surgery ≤ 5 years) were evaluated 3 to 15 years after surgery. Anthropometrics, range of motion, and basic medical history were obtained. Participants completed an upper extremity questionnaire (PODCI) and functional tests including grip and pinch strength, Box and Blocks, 9-hole pegboard, and strength-dexterity (S-D) tests. Results Almost all pollicized hands had poor strength and performed poorly on the traditional functional tests. Six of 10 pollicized hands had normal dexterity scores but were less stable in maintaining a steady-state force. Predictors of poorer outcomes included older age at surgery, reduced metacarpophalangeal and interphalangeal range of motion, and radial absence. Discussion Early childhood pollicization resulted in poor strength and overall function, but normal dexterity was often achieved using altered control strategies. Conclusions Most children will likely obtain adequate dexterity despite weakness after pollicization, but older children and those with the most severe involvement may have poorer outcomes.

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Section: Methodsmentioning

confidence: 99%

Long term functional outcomes after early childhood pollicization

Lightdale-Miric

Mueske

Lawrence

et al. 2015

Journal of Hand Therapy

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“…Therefore, KFS is diagnosed by the presence of 2 or more nonsegmented cervical vertebrae alone. 1 KFS is reported to be present in 1 of 42,000 individuals, and 57%-70% of all patients are female. Various classification schemes were developed.…”

Section: Discussionmentioning

confidence: 99%

Klippel-Feil Syndrome and Sprengel Deformity Combined with an Intraspinal Course of the Left Subclavian Artery and a Bovine Aortic Arch Variant

Floemer

Magerkurth²,

Jauckus³

et al. 2008

American Journal of Neuroradiology

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SUMMARY:We present a case of Klippel-Feil syndrome and Sprengel deformity with a bovine aortic arch and an aberrant course of the left subclavian artery in a 14-year-old boy. CT and MR imaging of the neck and upper thorax demonstrated a cervical osseous segmentation anomaly, a left common carotid artery originating from the innominate artery, and a left subclavian artery coursing through the intraspinal space at the C6 through T1 level. Possible embryonic mechanisms and clinical significance of this variant are reviewed. Klippel-Feil syndrome (KFS) is a heterogeneous entity that includes a large vascular variability. Exact evaluation of supra-aortic vessels before orthopedic correction has, therefore, been strongly recommended. Sprengel deformity (SD) has been readily associated with KFS, and both anomalies share many developmental and embryologic steps. In this setting, abnormal development of the fetal aortic arch and the vertebral or subclavian artery or both has been implicated as a causative factor in both syndromes. Nevertheless, an association between KFS, SD, and an aberrant intraspinal course of the left subclavian artery has, to the best of our knowledge, never been described. This variation, if not duly recognized, may have devastating consequences during surgery. Chronic intraspinal pulsation of this vessel, on the other hand, may eventually lead to myelopathic changes due to its proximity to the cervical spinal cord. Case ReportA 14-year-old boy with known KFS clinically presented with repetitive episodes of severe occipital headache, vertigo, and nausea combined with neck and shoulder discomfort, which lasted for weeks. Clinical examination showed a markedly reduced vertebral range of motion. An SD and fusion of the left ribs 1-3 were known. Sonography demonstrated a prominent right vertebral artery without stenosis. Blood pressure was normal. Contrast-enhanced CT of the head, neck, and upper thorax was performed to exclude cranial abnormalities and cervical fracture.Findings of cranial CT were normal. Fusion of the left side of the odontoid process and the lateral mass of C2 with the lateral mass of C1 and a bifid anterior and posterior C1 arch were noted. Multisegmental left-sided hemivertebral fusions were present at the levels C5 through T3 with a bifid spinous process, which led to a right-sided cervicothoracic angulation and scoliosis.Vessel status revealed a so-called bovine aortic arch variant. The first branch of the aortic arch was a common trunk, comprising the innominate artery and the left common carotid artery (Fig 1A). The second branch was the left subclavian artery. The first segment of this vessel showed a posterior course, entering the spinal canal at T1 ( Fig 1A, -B) with a horizontal course through the left epidural space, exiting posteriorly through an osseous defect of the left posterior arch at the same level (Fig 2A, -B) before resuming its normal trajectory within the supraclavicular space. The left vertebral artery originated from the left subclavian artery just before i...

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“…Multiple classification schemes have been proposed and are described in Table 3. Klippel−Feil syndrome may also be associated with additional multi‐organ system malformations, including neural tube defects, thoracic cage abnormalities, pulmonary, cardiovascular, and other skeletal anomalies, genitourinary abnormalities, myopathy, neuropathy, and cognitive disorders (reviewed in Tracy et al ) 97 . Various chromosomal abnormalities have been reported to occur in association with Klippel−Feil syndrome as indicated in Table 3.…”

Section: Klippel−feil Syndromementioning

confidence: 99%

Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans

Giampietro

Dunwoodie

Kusumi

et al. 2008

Annals of the New York Academy of Sciences

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Vertebral malformations contribute substantially to the pathophysiology of kyphosis and scoliosis, common health problems associated with back and neck pain, disability, cosmetic disfigurement, and functional distress. This review explores (1) recent advances in the understanding of the molecular embryology underlying vertebral development and relevance to elucidation of etiologies of several known human vertebral malformation syndromes; (2) outcomes of molecular studies elucidating genetic contributions to congenital and sporadic vertebral malformation; and (3) complex interrelationships between genetic and environmental factors that contribute to the pathogenesis of isolated syndromic and nonsyndromic congenital vertebral malformation. Discussion includes exploration of the importance of establishing improved classification systems for vertebral malformation, future directions in molecular and genetic research approaches to vertebral malformation, and translational value of research efforts to clinical management and genetic counseling of affected individuals and their families.

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Klippel-Feil Syndrome

Cited by 210 publications

References 32 publications

Long term functional outcomes after early childhood pollicization

Long term functional outcomes after early childhood pollicization

Klippel-Feil Syndrome and Sprengel Deformity Combined with an Intraspinal Course of the Left Subclavian Artery and a Bovine Aortic Arch Variant

Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans

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