klippel feil syndrome

Summary

Summary: A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.

Top Publications

  1. Pizzutillo P, Woods M, Nicholson L, MacEwen G. Risk factors in Klippel-Feil syndrome. Spine (Phila Pa 1976). 1994;19:2110-6 pubmed
    ..This study kinematically evaluated radiographs of the cervical spine of patients with the Klippel-Feil syndrome in flexion and in extension to determine alterations from normal motion and potential risk...
  2. Schaffer A, Kaplan F, Tracy M, O Brien M, Dormans J, Shore E, et al. Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome: clues from the BMP signaling pathway. Spine (Phila Pa 1976). 2005;30:1379-85 pubmed
    ..While the noggin gene (NOG) is not mutated in patients who have FOP, these findings extend a growing body of evidence implicating overactivity of the BMP signaling pathway in the molecular pathogenesis of FOP. ..
  3. Samartzis D, Kalluri P, Herman J, Lubicky J, Shen F. 2008 Young Investigator Award: The role of congenitally fused cervical segments upon the space available for the cord and associated symptoms in Klippel-Feil patients. Spine (Phila Pa 1976). 2008;33:1442-50 pubmed publisher
    ..A prospective radiographic and retrospective clinical chart review...
  4. Ul rikh E, Gubin A. [Operative treatment of instability of the cervical part of the spine in a child with Klippel-Feil syndrome]. Vestn Khir Im I I Grek. 2008;167:90-2 pubmed
  5. Thomsen M, Schneider U, Weber M, Johannisson R, Niethard F. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine (Phila Pa 1976). 1997;22:396-401 pubmed
    ..The authors evaluated the clinical and radiographic features, documented the associated anomalies, and registered the type of treatment...
  6. Vaidyanathan S, Hughes P, Soni B, Singh G, Sett P. Klippel-Feil syndrome - the risk of cervical spinal cord injury: a case report. BMC Fam Pract. 2002;3:6 pubmed
    ..Persons with Klippel-Feil Syndrome often have congenital anomalies of the urinary tract as well...
  7. Altay N, Yüce H, Aydogan H, Dörterler M. Airway management in newborn with Klippel-Feil syndrome. Braz J Anesthesiol. 2016;66:551-3 pubmed publisher
    ..We also think that positioning of this younger age group might be easier than older age groups due to incomplete ossification process. ..
  8. Teoh D, Williams D. Adult Klippel-Feil syndrome: haemodynamic instability in the prone position and postoperative respiratory failure. Anaesth Intensive Care. 2007;35:124-7 pubmed
    ..We also suggest thorough preoperative respiratory evaluation and elective postoperative intensive care as these patients are at high risk of developing postoperative respiratory failure. ..
  9. Harrington B. The hair collar sign as a marker for neural tube defects. Pediatr Dermatol. 2007;24:138-40 pubmed
    ..Physicians should consider radiographic evaluation of the spine in all newborns with a hair collar sign, as well as genetic screening. ..

More Information

Publications99

  1. Garg N, Sampath S, Yasha T, Chandramouli B, Devi B, Kovoor J. Is total excision of spinal neurenteric cysts possible?. Br J Neurosurg. 2008;22:241-51 pubmed publisher
    ..However, partial excision is a feasible option in intramedullary lesions and when significant adhesions occur. Although associated with higher risk of recurrence, the outcome is still good in these patients on re-excision. ..
  2. Asamoto S, Nestler U, Shulz C, Böker D. A case of basilar impression complicated with left frontal meningioma. No Shinkei Geka. 2003;31:1003-7 pubmed
    ..Subsequently, the tumor was resected via the left frontal approach using microsurgical technique. Histological examination disclosed fibroblastic meningioma...
  3. Matsumoto K, Wakahara K, Sumi H, Shimizu K. Central cord syndrome in patients with Klippel-Feil syndrome resulting from winter sports: report of 3 cases. Am J Sports Med. 2006;34:1685-9 pubmed
  4. Franzen D, Schulte B, Beyer D, Neidel J, Koebke J, de Vivie R. Klippel-Feil syndrome associated with aortic coarctation. Cardiovasc Pathol. 2003;12:115-7 pubmed
  5. Rahimi Movaghar V, Moghtaderi A, Shahriarian S, Keshmirian B. Klippel-Feil anomaly associated with thoracic hemivertebrae/butterfly vertebrae and patella hypoplasia. Clin Dysmorphol. 2004;13:39-41 pubmed
  6. Pai V, Lowe L, Castillo M, Huang B, Shao L. Posterior fossa dermoid cysts in association with Klippel-Feil syndrome: report of three cases. AJNR Am J Neuroradiol. 2007;28:1926-8 pubmed
    ..Advances in imaging technology and awareness of the association likely contribute to an increase in recently reported cases. ..
  7. Jalil J, Shafique M, Dar N. Klippel-Feil syndrome with situs inversus--a rare association. J Coll Physicians Surg Pak. 2008;18:248-9 pubmed publisher
    ..This is a case of KFS in a young girl along with situs inversus, which is an extremely rare association. Various systemic associations occurring in this multi-system disorder are also discussed. ..
  8. Holmes F. Klippel-Feil syndrome in a cheerleader. Clin J Sport Med. 2007;17:154-6 pubmed
  9. Das A, Das D, Das S, Ray B, Bandyopadhyay S, Chakrabarti A, et al. Klippel-Feil syndrome: a case report and current understanding of molecular genetic background. J Indian Med Assoc. 2007;105:213-4, 222 pubmed
    ..The current literatures based on the recent advances in understanding of molecular genetic control over embryonic development of the cervical spines were reviewed. ..
  10. Abel T, Chowdhary A, Gabikian P, Ellenbogen R, Avellino A. Acquired chiari malformation type I associated with a fatty terminal filum. Case report. J Neurosurg. 2006;105:329-32 pubmed
    ..This case contributes to the literature describing an acquired CM-I associated with a fatty filum and is the first published account to include MR imaging obtained before and after the onset of the malformation. ..
  11. Lagravere M, Barriga M, Valdizán C, Saldarriaga A, Pardo J, Flores M. The Klippel-Feil syndrome: a case report. J Can Dent Assoc. 2004;70:685-8 pubmed
    ..An 8-year-old boy with a short neck, low-set posterior hairline, deafness and limited neck motion was suspected of having such a condition. Clinical and radiographic examination led to the diagnosis of Klippel-Feil syndrome. ..
  12. Chan P, Hsieh W, Peng S. Klippel-Feil syndrome plus atretic meningocele in one identical twin and anencephaly in the other. J Formos Med Assoc. 2003;102:506-9 pubmed
    ..Prompt clinical suspicion with early diagnostic imaging for spine lesions and occult opening of neural tube is mandatory for further intervention and rehabilitation. ..
  13. Auerbach J, Hosalkar H, Kusuma S, Wills B, Dormans J, Drummond D. Spinal cord dimensions in children with Klippel-Feil syndrome: a controlled, blinded radiographic analysis with implications for neurologic outcomes. Spine (Phila Pa 1976). 2008;33:1366-71 pubmed publisher
    ..In our cohort of patients we have noted statistically significant differences in axial cord dimensions, with no differences in CSF column, suggesting that the cord size is smaller in KFS children compared with age-matched controls. ..
  14. Kawano Y, Tamura A, Abe Y, Kadota J. Klippel-Feil syndrome accompanied by pulmonary artery sling. Intern Med. 2008;47:327 pubmed
  15. Kaya R, Turkmenoglu O, Dalkilic T, Aydin Y. Removal of an anterior spinal dermoid cyst with fenestra corpectomy in Klippel-Feil syndrome: technical case report. Neurosurgery. 2003;53:1230-3; discussion 1233-4 pubmed
    ..A spinal cord tumor occurring in association with Klippel-Feil syndrome is quite rare. The removal of an anteriorly located spinal cord tumor at the level of block vertebrae creates a surgical challenge...
  16. Toyoshima M, Maegaki Y, Yuasa I, Ohno K. Monozygotic twins discordant for Klippel-Feil syndrome. Pediatr Neurol. 2006;34:76-8 pubmed
    ..The discordance between the twins suggests that Klippel-Feil syndrome results in part from a postzygotic somatic mutation or intrauterine environmental factors. ..
  17. Samartzis D, Herman J, Lubicky J, Shen F. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976). 2006;31:E798-804 pubmed
    ..This classification system has promise for early detection for CSS. Activity modification should be stressed in KFS patients at high risk for neurologic compromise. ..
  18. Menezes A. Honored guest presentation: conception to implication: craniocervical junction database and treatment algorithm. Clin Neurosurg. 2005;52:154-62 pubmed
  19. Di Maio L, Marcelli V, Vitale C, Menzione M, De Giorgio A, Briganti F, et al. Cervico-oculo-Acoustic syndrome in a male with consanguineous parents. Can J Neurol Sci. 2006;33:237-9 pubmed
    ..Neurophysiological investigations revealed lower brainstem and cervical cord involvement. ..
  20. Ozcakar L, Kaymak B, Vanderstraeten G. Klippel-Feil syndrome presenting with bilateral thoracic outlet syndrome. Spine (Phila Pa 1976). 2005;30:1473; author reply 1473-4 pubmed
  21. Roychoudhury A, Batra P, Parkash H. Pseudo temporomandibular joint ankylosis in a patient with Klippel-Feil syndrome. J Oral Maxillofac Surg. 2005;63:257-61 pubmed
  22. Mahirogullari M, Ozkan H, Yildirim N, Cilli F, Gudemez E. [Klippel-Feil syndrome and associated congenital abnormalities: evaluation of 23 cases]. Acta Orthop Traumatol Turc. 2006;40:234-9 pubmed
    ..Patients with Klippel-Feil syndrome should be assessed for associated systemic abnormalities besides cervical fusion. ..
  23. Samartzis D, Lubicky J, Herman J, Shen F. 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. Spine J. 2006;6:723-4 pubmed
  24. Floemer F, Magerkurth O, Jauckus C, Lutschg J, Schneider J. Klippel-Feil syndrome and Sprengel deformity combined with an intraspinal course of the left subclavian artery and a bovine aortic arch variant. AJNR Am J Neuroradiol. 2008;29:306-7 pubmed
    ..Possible embryonic mechanisms and clinical significance of this variant are reviewed. ..
  25. Nouri A, Martin A, Lange S, Kotter M, Mikulis D, Fehlings M. Congenital Cervical Fusion as a Risk Factor for Development of Degenerative Cervical Myelopathy. World Neurosurg. 2017;100:531-539 pubmed publisher
    ..Patients with CCF also have an altered pattern of degenerative changes, seemingly related to adjacent segment degeneration that preferentially affects midcervical levels. ..
  26. Issaivanan M, Virdi V, Parmar V. Subclavian artery supply disruption sequence-Klippel-Feil and Mobius anomalies. Indian J Pediatr. 2002;69:441-2 pubmed
    ..A one-month-old child with features of all three anomalies along with other associated features is described here. ..
  27. Takahira S, Kondoh T, Sumi M, Tagawa M, Obatake M, Kinoshita E, et al. Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: a new variant of Dubowitz syndrome?. Am J Med Genet A. 2005;138A:297-9 pubmed
  28. Kagawa M, Jinnai T, Matsumoto Y, Kawai N, Kunishio K, Tamiya T, et al. Chiari I malformation accompanied by assimilation of the atlas, Klippel-Feil syndrome, and syringomyelia: case report. Surg Neurol. 2006;65:497-502; discussion 502 pubmed
  29. Yin Y, Qiao G, Yu X. Surgical Treatment of Occipitocervical Dislocation with Atlas Assimilation and Klippel-Feil Syndrome Using Occipitalized C1 Lateral Mass and C2 Fixation and Reduction Technique. World Neurosurg. 2016;95:46-52 pubmed publisher
    ..6 (P < 0.01). In patients with OC dislocation and KFS of C2-3 fusion and atlas assimilation, posterior manipulative reduction combined with occipitalized C1 lateral mass and C2 fixation provides a reliable and effective treatment. ..
  30. Al Zahrani T. Reverse LMA insertion in a neonate with Klippel-Feil syndrome--case report. Middle East J Anaesthesiol. 2007;19:625-9 pubmed
  31. Samartzis D, Herman J, Lubicky J, Shen F. Sprengel's deformity in Klippel-Feil syndrome. Spine (Phila Pa 1976). 2007;32:E512-6 pubmed
    ..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. ..
  32. Turgut M. Klippel-Feil syndrome in association with posterior fossa dermoid tumour. Acta Neurochir (Wien). 2009;151:269-76 pubmed publisher
  33. Sciubba D, Garonzik I, Suk I, Gallia G, Tufaro A, Wolinsky J, et al. Frameless stereotaxy in a transmandibular, circumglossal, retropharyngeal cervical decompression in a Klippel-Feil patient: technical note. Eur Spine J. 2006;15:1286-91 pubmed
    ..This technical note illustrates the previously undescribed, successful use of frameless stereotaxy to the transmandibular, circumglossal, retropharyngeal surgical approach in a patient with Klippel-Feil syndrome. ..
  34. Larson A, Josephson K, Pauli R, Opitz J, Williams M. Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome?. Am J Med Genet. 2001;101:158-62 pubmed
    ..Clinical aspects of a KF classification are discussed. The state of molecular research on KF is briefly reported. We conclude that this set of anomalies is a novel combination, probably representing pleiotropy of a single Mendelian gene...
  35. Narang M, Goyal J. Uncommon manifestations of Klippel Feil syndrome. Indian Pediatr. 2006;43:265-6 pubmed
  36. Austrich Senosian E, Tellez Zenteno J, Garcia Ramos G, Corona R. [Klippel-Feil syndrome. Three-dimensional tomographic images]. Gac Med Mex. 2001;137:609-11 pubmed
    ..Here, we present the three-dimensional images by computed tomography of a 9-year-old boy with multiple fusion of the cervical vertebraes...
  37. Haktanir A, Degirmenci B, Albayrak R, Acar M, Yucel A. Klippel-Feil syndrome associated with pneumatocyst of the right cervical rib. South Med J. 2005;98:1132-4 pubmed
    ..There was no additional skeletal abnormality except for fusion of the C3 and C4 vertebral bodies. To the best of our knowledge, this is the first reported instance of this particular association...
  38. Patel P, Lauerman W. Maurice Klippel. Spine (Phila Pa 1976). 1995;20:2157-60 pubmed
  39. Kirkim G, Erdag T, Serbetçioğlu M. [Audiological evaluation of a child with Klippel-Feil syndrome]. Kulak Burun Bogaz Ihtis Derg. 2008;18:171-4 pubmed
  40. Ritterbusch J, McGinty L, Spar J, Orrison W. Magnetic resonance imaging for stenosis and subluxation in Klippel-Feil syndrome. Spine (Phila Pa 1976). 1991;16:S539-41 pubmed
    ..Magnetic resonance imaging is a useful tool and should be used to evaluate Klippel-Feil patients for cord abnormalities and cord compression...
  41. Valiaveedan S, Rath G, Bithal P, Ali Z, Prabhakar H. Posterior fossa dermoid: yet another cause of difficult airway?. J Anesth. 2008;22:446-8 pubmed publisher
    ..As these anomalies seem to form part of a single, unnamed syndrome, the possibility of upper cervical spine abnormality leading to a difficult airway should be anticipated in patients with posterior fossa dermoid...
  42. Farid I, Omar O, Insler S. Multiple anesthetic challenges in a patient with Klippel-Feil Syndrome undergoing cardiac surgery. J Cardiothorac Vasc Anesth. 2003;17:502-5 pubmed
  43. Papagrigorakis M, Synodinos P, Daliouris C, Metaxotou C. De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia. Eur J Pediatr. 2003;162:594-7 pubmed
    ..No renal anomaly or heart disease was present. In addition, she exhibited oligodontia of both the deciduous and permanent dentition, a unique characteristic that has not yet been reported in any non-cleft palate KFA case...
  44. McGaughran J, Oates A, Donnai D, Read A, Tassabehji M. Mutations in PAX1 may be associated with Klippel-Feil syndrome. Eur J Hum Genet. 2003;11:468-74 pubmed
    ..The other variants were missense, silent or intronic changes not represented in the control panel tested. The significance of these results and the possible role of PAX1 in the pathogenesis of KFS are discussed...
  45. Goto M, Nishimura G, Nagai T, Yamazawa K, Ogata T. Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation. Am J Med Genet A. 2006;140:1013-5 pubmed
  46. Dirik E, Yis U, Dirik M, Cakmakci H, Men S. Vertebral artery dissection in a patient with Wildervanck syndrome. Pediatr Neurol. 2008;39:218-20 pubmed publisher
    ..Vertebral artery dissection should be considered in patients with Klippel-Feil syndrome who present with acute-onset neurologic signs. Movements such as hyperextension with rotation of the neck should be avoided in these cases...
  47. Muzumdar D, Goel A. Posterior cranial fossa dermoid in association with craniovertebral and cervical spinal anomaly: report of two cases. Pediatr Neurosurg. 2001;35:158-61 pubmed
    ..As both lesions are related to an embryological disorder, issues regarding the possible stage of dysgenesis are analyzed. The treatment options in such cases are discussed...
  48. Nagashima H, Morio Y, Teshima R. No neurological involvement for more than 40 years in Klippel-Feil syndrome with severe hypermobility of the upper cervical spine. Arch Orthop Trauma Surg. 2001;121:99-101 pubmed
    ..We believe that early prophylactic stabilization should not be indicated for Klippel-Feil syndrome without neurological involvement only because of hypermobility...
  49. Erol M, Caksen H, Tan O, Atik B, Unal O, Odabas D. Report of a girl with Klippel-feil syndrome and Poland anomaly. Genet Couns. 2004;15:469-72 pubmed
    ..To the best of our knowledge a case of Klippel-Feil syndrome and Poland anomaly has not been described before, although a combination of Poland, Klippel-Feil and Moebius anomalies has been reported in the literature...
  50. Gelaw B, Ali S, Becker J. Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma. Skeletal Radiol. 2004;33:613-5 pubmed
    ..We briefly discuss the relationship of these diseases and suggest that the cause for mental retardation is cerebral atrophy as shown on imaging...
  51. Tubbs R, Oakes W, Blount J. Isolated atlantal stenosis in a patient with idiopathic growth hormone deficiency, and Klippel-Feil and Duane's syndromes. Childs Nerv Syst. 2005;21:421-4 pubmed
    ..An unusual case of this rare clinical entity is reported in conjunction with multiple other anomalies...
  52. Alomari A. Diversion venography--a modified technique in Klippel-Trenaunay syndrome: initial experience. J Vasc Interv Radiol. 2010;21:685-9 pubmed publisher
    ..To evaluate an initial experience with diversion venography, a modified venographic technique, to assess the deep venous system in patients with Klippel-Trenaunay syndrome (KTS)...
  53. Fernandes T, Costa C. Klippel-Feil syndrome with other associated anomalies in a medieval Portuguese skeleton (13th-15th century). J Anat. 2007;211:681-5 pubmed
  54. Yuksel M, Karabiber H, Yuksel K, Parmaksiz G. Diagnostic importance of 3D CT images in Klippel-Feil Syndrome with multiple skeletal anomalies: a case report. Korean J Radiol. 2005;6:278-81 pubmed
    ..In this study, we discuss the atypical clinical features and the diagnostic value of three-dimensional CT for evaluating the skeletal anomalies of the Klippel-Feil syndrome cases...
  55. Loo C, Freeman B, Stanford D. CNS findings in iniencephaly: case report and literature review. Pathology. 2001;33:112-5 pubmed
  56. Dickerman R, Colle K, Mittler M. Intramedullary inflammatory mass dorsal to the Klippel-Feil deformity: error in development or response to an abnormal motion segment?. Spinal Cord. 2004;42:720-2 pubmed
    ..Case study on a 45-year-old female with progressive weakness and paresthesias in her lower extremities and a magnetic resonance image of an intramedullary mass at the level of C5-6 and a Klippel-Feil (KF) deformity ventral to the lesion...
  57. Hudorovic N. ICVTS on-line discussion A. Thoracic bifurcation and Klippel-Feil syndrome. Interact Cardiovasc Thorac Surg. 2007;6:404-5 pubmed
  58. Tassabehji M, Fang Z, Hilton E, McGaughran J, Zhao Z, de Bock C, et al. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat. 2008;29:1017-27 pubmed publisher
  59. Smoker W, Khanna G. Imaging the craniocervical junction. Childs Nerv Syst. 2008;24:1123-45 pubmed publisher
    ..Occipital bone anomalies and atlanto-occipital non-segmentation typically produce basilar invagination. Atlas anomalies predominantly involve the posterior arch, while the os odontoideum accounts for the majority of axis anomalies...
  60. Hinojosa M, Tatagiba M, Harada K, Samii M. Dermoid cyst in the posterior fossa accompanied by Klippel-Feil syndrome. Childs Nerv Syst. 2001;17:97-100 pubmed
    ..A posterior fossa dermoid cyst with dermal sinus and Klippel-Feil syndrome are reported in the same patient. A 23-year-old woman was admitted to hospital with progressive headaches...
  61. Thomsen M, Krober M, Schneider U, Carstens C. Congenital limb deficiences associated with Klippel-Feil syndrome: a survey of 57 subjects. Acta Orthop Scand. 2000;71:461-4 pubmed
    ..Sclerotome 6 was mainly affected in our study. In 4 of the 5 patients, the cervical fusion level and sclerotome level of the limb deficiency clearly or partly matched, whereas there was no agreement in 1 patient...
  62. Abbas J, Nazzal M, Serrano P, Elmer L. Aortic arch abnormality in a patient with Klippel-Feil syndrome. Vascular. 2006;14:43-6 pubmed
    ..An embryologic defect associated with this type of abnormality is proposed, with defects of development of the third aortic arch and the aortic sac secondarily...
  63. Cakmakkaya O, Kaya G, Altintas F, Bakan M, Yildirim A. Anesthetic management of a child with Arnold-Chiari malformation and Klippel-Feil syndrome. Paediatr Anaesth. 2006;16:355-6 pubmed
  64. Olive P, Whitecloud T, Bennett J. Lower cervical spondylosis and myelopathy in adults with Down's syndrome. Spine (Phila Pa 1976). 1988;13:781-4 pubmed
  65. Tawk R, Ondra S, Jorge A, Morrison T, Ganju A. Hypersegmentation, Klippel-Feil syndrome, and hemivertebra in a scoliotic patient. J Am Coll Surg. 2002;195:570-1 pubmed
  66. McGaughran J. Klippel-Feil anomaly in Fanconi anemia. Clin Dysmorphol. 2003;12:197 pubmed
    ..A boy is described with Fanconi anemia (FA) and Klippel-Feil anomaly. This suggests the diagnosis of FA should be considered in patients with vertebal malformations as well as other suggestive congenital anomalies...
  67. Kotil K, Yavasca P, Bilge T. Postoperative massive macroglossia in Klippel-Feil syndrome after posterior occipitocervical fixation surgery in the sitting position. J Spinal Disord Tech. 2006;19:226-9 pubmed
    ..This complication is a life-threatening complication and must be treated promptly. Diverse etiologic mechanisms are discussed along with preventive and therapeutic measures...
  68. McGirt M, Attenello F, Sciubba D, Gokaslan Z, Wolinsky J. Endoscopic transcervical odontoidectomy for pediatric basilar invagination and cranial settling. Report of 4 cases. J Neurosurg Pediatr. 2008;1:337-42 pubmed publisher
    ..The ETO technique allows an alternative approach for the treatment of ventral pathological entities at the craniocervical junction in pediatric patients...
  69. Kamoun R, Kria L, Erraies K, Anane R, Meddeb Ouertani A. [Ocular coloboma associated with cervico-oculo-acoustic syndrome]. J Fr Ophtalmol. 2006;29:e16 pubmed
    Cervico-oculo-acoustic syndrome is an uncommon syndrome consisting of Klippel Feil syndrome, deafness, and Duane syndrome. We relate a new case of cervico-oculo-acoustic syndrome.
  70. Paksoy Y, Seker M, Kalkan E. Klippel-Feil syndrome associated with persistent trigeminal artery. Spine (Phila Pa 1976). 2004;29:E193-6 pubmed
    ..It should be considered that they might be related with the insufficiency or dysfunction of the embryologic developmental process...
  71. Karimi M, Razavi M, Fattal D. Rubral lateropulsion due to vertebral artery dissection in a patient with Klippel-Feil syndrome. Arch Neurol. 2004;61:583-5 pubmed
    ..Neurologic deficits in patients with Klippel-Feil syndrome usually are attributed to direct compression of neuronal structures or hypoperfusion secondary to compression of the vertebral arteries by bony abnormalities...
  72. O Donnel D, Seupaul R. Klippel-Feil syndrome. Am J Emerg Med. 2008;26:252.e1-2 pubmed publisher
    ..He had congenital fusion of multiple cervical vertebrae consistent with Klippel-Feil syndrome. This disorder, although rare, is important for emergency medicine physicians to recognize as a risk factor for cervical cord syndromes...
  73. Vanderstraeten G, Ozcakar L, Verstraete K. Thoracic outlet syndrome portending Klippel-Feil syndrome. Joint Bone Spine. 2006;73:763-4 pubmed
  74. Demir O, Cakmakci H, Erdag T, Men S. Narrow duplicated internal auditory canal: radiological findings and review of the literature. Pediatr Radiol. 2005;35:1220-3 pubmed
    ..In this patient, the IAC consisted of two separate narrow bony canals clearly seen on 3D temporal bone CT and one nerve that was delineated on MRI. The contralateral external auditory canal was stenotic and the ossicles were dysplastic...
  75. Marinozzi S, Aruta A. [G. F. d'Acquapendente and Don Carlo Medici's gibbosity]. Med Secoli. 2007;19:285-93 pubmed
    ..The recent paleopathological researches have diagnosed his congenital cervical gibbosity as effect of the Klippel-Feil's syndrome, and characteristic lesions of tubercolosis...
  76. Hikade K, Bitar G, Edgerton M, Morgan R. Modified Z-plasty repair of webbed neck deformity seen in Turner and Klippel-Feil syndrome. Cleft Palate Craniofac J. 2002;39:261-6 pubmed
    ..In Turner's syndrome, a subcutaneous band of thickened fascia and a low neck hairline present a challenge to the surgeon when designing a repair. The authors propose the following new technique that addresses both issues...
  77. Molnár S, Szappanos L, Körmendi Z, Veres R. Occipitoatlantoaxial instability and congenital thoracic vertebral deformity in Pierre Robin sequence: a case report. Spine (Phila Pa 1976). 2007;32:E501-4 pubmed
    ..Case report of a patient with Pierre Robin sequence who presented with occipitoatlantoaxial instability and congenital thoracic deformity...
  78. Mintken P, Metrick L, Flynn T. Upper cervical ligament testing in a patient with os odontoideum presenting with headaches. J Orthop Sports Phys Ther. 2008;38:465-75 pubmed publisher
    ..Resident's case problem...
  79. Stallmer M, Vanaharam V, Mashour G. Congenital cervical spine fusion and airway management: a case series of Klippel-Feil syndrome. J Clin Anesth. 2008;20:447-51 pubmed publisher
  80. Aksoy F, Aksoy O, Gomori J. Klippel-Feil syndrome in association with posterior fossa suboccipital dermoid cyst. Eur Radiol. 2001;11:142-4 pubmed
    ..Diffusion-weighted images of brain may differentiate these masses from cerebral spinal fluid collections...
  81. Tubbs R, McGirt M, Oakes W. Surgical experience in 130 pediatric patients with Chiari I malformations. J Neurosurg. 2003;99:291-6 pubmed
    ..The aim of this study was to present the long-term findings of a surgical series of pediatric patients with Chiari I malformations...
  82. Theiss S, Smith M, Winter R. The long-term follow-up of patients with Klippel-Feil syndrome and congenital scoliosis. Spine (Phila Pa 1976). 1997;22:1219-22 pubmed
    ..This study evaluated the long-term results of Klippel-Feil syndrome in patients with congenital scoliosis...
  83. Samartzis D, Shen F, Herman J, Mardjetko S. Atlantoaxial rotatory fixation in the setting of associated congenital malformations: a modified classification system. Spine (Phila Pa 1976). 2010;35:E119-27 pubmed publisher
    ..A case report...
  84. van Rijn P, Cremers C. Surgery for congenital conductive deafness in Klippel-Feil syndrome. Ann Otol Rhinol Laryngol. 1988;97:347-52 pubmed
    ..Anomalies of inner ear structures established preoperatively may be a contraindication for stapedectomy...
  85. Daum R, Jones D. Fibreoptic intubation in Klippel-Feil syndrome. Anaesthesia. 1988;43:18-21 pubmed
    ..The role of the fiberscope and the advantage of pre-operative assessment of the difficult airway are discussed...
  86. Bernal Sánchez Arjona M, Palomino A. [Klippel-Feil syndrome: unusual iconography]. Neurologia. 2002;17:383 pubmed
  87. Rielly J. Intrathoracic carotid bifurcation in Klippel-Feil syndrome. J Vasc Surg. 2008;47:1071-3 pubmed publisher
    ..The intrathoracic location of the carotid bifurcation makes endarterectomy difficult and patients may do better with carotid artery stenting. Ultrasound can be confusing in these patients and MRA may be preferable...
  88. Sehata H, Kohase H, Takahashi M, Miyamoto T, Umino M. Tracheal intubation using a new CCD camera-equipped device: a report of two cases with a difficult intubation. Acta Anaesthesiol Scand. 2005;49:1218-20 pubmed
    ..In both cases, the use of an intubation device equipped with a charge-coupled device camera, the endotracheal intubation device (EID), allowed smooth tracheal intubation...
  89. Muroi A, Fleming K, McComb J. Split medulla in association with multiple closed neural tube defects. Childs Nerv Syst. 2010;26:967-71 pubmed publisher
    ..We describe the case of a patient with a split medulla associated with multiple closed neural tube defects...
  90. Yoshihara T, Suzuki J, Yawaka Y. Anomaly of cervical vertebrae found on orthodontic examination: 8-year-old boy with cleft lip and palate diagnosed with Klippel-Feil syndrome. Angle Orthod. 2010;80:975-80 pubmed publisher
    ..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...