eMedicine Specialties > Orthopedic Surgery > Spine

Klippel-Feil Syndrome: Multimedia

Author: J Andy Sullivan, MD, Clinical Professor of Pediatric Orthopedics, Department of Orthopedic Surgery, University of Oklahoma College of Medicine
Contributor Information and Disclosures

Updated: Jun 23, 2009

Multimedia

An anomaly of the occipitocervical junction in a ...
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Media file 1: An anomaly of the occipitocervical junction in a patient with Klippel-Feil syndrome. The anomaly was unstable and was fused.
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An anomaly of the occipitocervical junction in a ...

An anomaly of the occipitocervical junction in a patient with Klippel-Feil syndrome. The anomaly was unstable and was fused.

Posterior photo of a patient with Klippel-Feil sy...
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Media file 2: Posterior photo of a patient with Klippel-Feil syndrome and an anomaly of the occipitocervical junction. The image shows an elevated left shoulder due to a Sprengel anomaly; a short, webbed neck; and a low hairline.
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Posterior photo of a patient with Klippel-Feil sy...

Posterior photo of a patient with Klippel-Feil syndrome and an anomaly of the occipitocervical junction. The image shows an elevated left shoulder due to a Sprengel anomaly; a short, webbed neck; and a low hairline.

This patient has Klippel-Feil syndrome and an ano...
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Media file 3: This patient has Klippel-Feil syndrome and an anomaly of the occipitocervical junction. The patient's flexion and extension after the occipitocervical fusion is demonstrated. His rotation was very limited.
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This patient has Klippel-Feil syndrome and an ano...

This patient has Klippel-Feil syndrome and an anomaly of the occipitocervical junction. The patient's flexion and extension after the occipitocervical fusion is demonstrated. His rotation was very limited.

Flexion of the cervical spine in a patient who ha...
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Media file 4: Flexion of the cervical spine in a patient who had an occipitocervical fusion.
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Flexion of the cervical spine in a patient who ha...

Flexion of the cervical spine in a patient who had an occipitocervical fusion.

Anteroposterior radiograph of a patient with Klip...
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Media file 5: Anteroposterior radiograph of a patient with Klippel-Feil syndrome showing multiple congenital anomalies and cervical scoliosis
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Anteroposterior radiograph of a patient with Klip...

Anteroposterior radiograph of a patient with Klippel-Feil syndrome showing multiple congenital anomalies and cervical scoliosis

Lateral radiograph of a patient with Klippel-Feil...
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Media file 6: Lateral radiograph of a patient with Klippel-Feil syndrome showing 2 fused segments separated by an open segment.
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Lateral radiograph of a patient with Klippel-Feil...

Lateral radiograph of a patient with Klippel-Feil syndrome showing 2 fused segments separated by an open segment.

This anteroposterior radiograph of the spine in a...
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Media file 7: This anteroposterior radiograph of the spine in a patient with Klippel-Feil syndrome demonstrates congenital scoliosis and a Sprengel deformity.
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This anteroposterior radiograph of the spine in a...

This anteroposterior radiograph of the spine in a patient with Klippel-Feil syndrome demonstrates congenital scoliosis and a Sprengel deformity.

This radiograph demonstrates an omovertebral bone...
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Media file 8: This radiograph demonstrates an omovertebral bone (marked with 2 arrows). This anomaly limits cervical spine motion.
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This radiograph demonstrates an omovertebral bone...

This radiograph demonstrates an omovertebral bone (marked with 2 arrows). This anomaly limits cervical spine motion.

This photo demonstrates synkinesia. As the patien...
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Media file 9: This photo demonstrates synkinesia. As the patient attempts to oppose the thumb and finger of the right hand, the same movement occurs involuntarily in the left.
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This photo demonstrates synkinesia. As the patien...

This photo demonstrates synkinesia. As the patient attempts to oppose the thumb and finger of the right hand, the same movement occurs involuntarily in the left.

This intravenous pyelogram was performed before u...
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Media file 10: This intravenous pyelogram was performed before ultrasound was available to image the kidneys. Note unilateral absence of the left kidney.
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This intravenous pyelogram was performed before u...

This intravenous pyelogram was performed before ultrasound was available to image the kidneys. Note unilateral absence of the left kidney.

More on Klippel-Feil Syndrome

Overview: Klippel-Feil Syndrome
Workup: Klippel-Feil Syndrome
Treatment: Klippel-Feil Syndrome
Follow-up: Klippel-Feil Syndrome
Multimedia: Klippel-Feil Syndrome
References
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References

  1. Samartzis D, Lubicky JP, Herman J. 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. Spine. May 15 2006;31(11):E335-8. [Medline].

  2. Samartzis DD, Herman J, Lubicky JP. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine. Oct 1 2006;31(21):E798-804. [Medline].

  3. Gjorup PA, Gjorup L. Klippel-Feil's syndrome. Dan Med Bull. Mar 1964;11:50-3. [Medline].

  4. Brown MW, Templeton AW, Hodges FW III. The incidence of acquired and congenital fusions in the cervical spine. Am J Roentgenol. 1964;94:1255-1259. [Medline].

  5. Neidengard L, Carter TE, Smith DW. Klippel-Feil malformation complex in fetal alcohol syndrome. Am J Dis Child. Sep 1978;132(9):929-30. [Medline].

  6. Schilgen M, Loeser H. Klippel-Feil anomaly combined with fetal alcohol syndrome. Eur Spine J. 1994;3(5):289-90. [Medline].

  7. Tredwell SJ, Smith DF, Macleod PJ, et al. Cervical spine anomalies in fetal alcohol syndrome. Spine. Jul-Aug 1982;7(4):331-4. [Medline].

  8. Gunderson CH, Greenspan RH, Glaser GH, et al. The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine (Baltimore). Nov 1967;46(6):491-512. [Medline].

  9. Gray SW, Romaine CB, Skandalakis JE. Congenital fusion of the cervical vertebrae. Surg Gynecol Obstet. Feb 1964;118:373-85. [Medline].

  10. Bavinck JN, Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. Am J Med Genet. Apr 1986;23(4):903-18. [Medline].

  11. Brill CB, Peyster RG, Keller MS, et al. Isolation of the right subclavian artery with subclavian steal in a child with Klippel-Feil anomaly: an example of the subclavian artery supply disruption sequence. Am J Med Genet. Apr 1987;26(4):933-40. [Medline].

  12. Rouvreau P, Glorion C, Langlais J, et al. Assessment and neurologic involvement of patients with cervical spine congenital synostosis as in Klippel-Feil syndrome: study of 19 cases. J Pediatr Orthop B. Jul 1998;7(3):179-85. [Medline].

  13. Herring JA, Bunnell WP. Klippel-Feil syndrome with neck pain. J Pediatr Orthop. May-Jun 1989;9(3):343-6. [Medline].

  14. Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome; a constellation of associated anomalies. J Bone Joint Surg Am. Sep 1974;56(6):1246-53. [Medline].

  15. Louw JA, Albertse H. Traumatic quadriplegia after minor trauma in the Klippel-Feil syndrome. S Afr Med J. Dec 19 1987;72(12):889-90. [Medline].

  16. Samartzis D, Herman J, Lubicky JP, Shen FH. Sprengel's deformity in Klippel-Feil syndrome. Spine. Aug 15 2007;32(18):E512-6. [Medline].

  17. Drvaric DM, Ruderman RJ, Conrad RW, et al. Congenital scoliosis and urinary tract abnormalities: are intravenous pyelograms necessary?. J Pediatr Orthop. Jul-Aug 1987;7(4):441-3. [Medline].

  18. McGaughran JM, Kuna P, Das V. Audiological abnormalities in the Klippel-Feil syndrome. Arch Dis Child. Oct 1998;79(4):352-5. [Medline]. [Full Text].

  19. Brougham DI, Cole WG, Dickens DR, et al. Torticollis due to a combination of sternomastoid contracture and congenital vertebral anomalies. J Bone Joint Surg Br. May 1989;71(3):404-7. [Medline]. [Full Text].

  20. Thomsen M, Kröber M, Schneider U. Congenital limb deficiencies associated with Klippel-Feil syndrome: a survey of 57 subjects. Acta Orthop Scand. Oct 2000;71(5):461-4. [Medline].

  21. Chattopadhyay A, Shah AM, Kher A, et al. Craniosynostosis and Klippel-Feil syndrome: a rare association. Indian J Pediatr. Nov-Dec 1996;63(6):819-22. [Medline].

  22. Miyamoto RT, Yune HY, Rosevear WH. Klippel-Feil syndrome and associated ear deformities. Am J Otol. Oct 1983;5(2):113-9. [Medline].

  23. Sherk HH, Shut L, Chung S. Iniencephalic deformity of the cervical spine with Klippel-Feil anomalies and congenital elevation of the scapula; report of three cases. J Bone Joint Surg Am. Sep 1974;56(6):1254-9. [Medline].

  24. Helmi C, Pruzansky S. Craniofacial and extracranial malformations in the Klippel-Feil syndrome. Cleft Palate J. Jan 1980;17(1):65-88. [Medline].

  25. Stadnicki G, Rassumowski D. The association of cleft palate with the Klippel-Feil syndrome. Oral Surg Oral Med Oral Pathol. Mar 1972;33(3):335-40. [Medline].

  26. Theiss SM, Smith MD, Winter RB. The long-term follow-up of patients with Klippel-Feil syndrome and congenital scoliosis. Spine. Jun 1 1997;22(11):1219-22. [Medline].

  27. Auerbach JD, Hosalkar HS, Kusuma SK, Wills BP, Dormans JP, Drummond DS. Spinal cord dimensions in children with Klippel-Feil syndrome: a controlled, blinded radiographic analysis with implications for neurologic outcomes. Spine. May 20 2008;33(12):1366-71. [Medline].

  28. Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH. The extent of fusion within the congenital Klippel-Feil segment. Spine. Jul 1 2008;33(15):1637-42. [Medline].

  29. Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH. 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. Jun 1 2008;33(13):1442-50. [Medline].

  30. Smoker WR, Khanna G. Imaging the craniocervical junction. Childs Nerv Syst. Oct 2008;24(10):1123-45. [Medline].

  31. Koop SE, Winter RB, Lonstein JE. The surgical treatment of instability of the upper part of the cervical spine in children and adolescents. J Bone Joint Surg Am. Mar 1984;66(3):403-11. [Medline].

  32. Baba H, Maezawa Y, Furusawa N. The cervical spine in the Klippel-Feil syndrome. A report of 57 cases. Int Orthop. 1995;19(4):204-8. [Medline].

  33. Beals RK, Rolfe B. VATER association. A unifying concept of multiple anomalies. J Bone Joint Surg Am. Jul 1989;71(6):948-50. [Medline].

  34. Dolan KD. Developmental abnormalities of the cervical spine below the axis. Radiol Clin North Am. Aug 1977;15(2):167-75. [Medline].

  35. Dubey SP, Ghosh LM. Klippel-Feil syndrome with congenital conductive deafness: report of a case and review of literature. Int J Pediatr Otorhinolaryngol. Jan 1993;25(1-3):201-8. [Medline].

  36. Greenspan A, Cohen J, Szabo RM. Klippel-Feil syndrome. An unusual association with Sprengel deformity, omovertebral bone, and other skeletal, hematologic, and respiratory disorders. A case report. Bull Hosp Jt Dis Orthop Inst. 1991;51(1):54-62. [Medline].

  37. Gunderson CH, Solitare GB. Mirror movements in patients with the Klippel-Feil syndrome. Neuropathologic observations. Arch Neurol. Jun 1968;18(6):675-9. [Medline].

  38. Jarvis JF, Sellars SL. Klippel-Feil deformity associated with congenital conductive deafness. J Laryngol Otol. Mar 1974;88(3):285-9. [Medline].

  39. Klippel M, Feil A. The classic: a case of absence of cervical vertebrae with the thoracic cage rising to the base of the cranium (cervical thoracic cage). Clin Orthop Relat Res. 1975;3-8. [Medline].

  40. McLay K, Maran AG. Deafness and the Klippel-Feil syndrome. J Laryngol Otol. Feb 1969;83(2):175-84. [Medline].

  41. Moore WB, Matthews TJ, Rabinowitz R. Genitourinary anomalies associated with Klippel-Feil syndrome. J Bone Joint Surg Am. Apr 1975;57(3):355-7. [Medline].

  42. Ohtani I, Dubois CN. Aural abnormalities in Klippel-Feil syndrome. Am J Otol. Nov 1985;6(6):468-71. [Medline].

  43. Palant DI, Carter BL. Klippel-Feil syndrome and deafness. A study with polytomography. Am J Dis Child. Mar 1972;123(3):218-21. [Medline].

  44. Ramsey J, Bliznak J. Klippel-Feil syndrome with renal agenesis and other anomalies. Am J Roentgenol Radium Ther Nucl Med. Nov 1971;113(3):460-3. [Medline].

  45. Stark EW, Borton TE. Hearing loss and the Klippel-Feil syndrome. Am J Dis Child. Mar 1972;123(3):233-5. [Medline].

  46. Stewart EJ, O'Reilly BF. Klippel-Feil syndrome and conductive deafness. J Laryngol Otol. Oct 1989;103(10):947-9. [Medline].

  47. Van Kerckhoven MF, Fabry G. The Klippel-Feil syndrome: a constellation of deformities. Acta Orthop Belg. 1989;55(2):107-18. [Medline].

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Further Reading

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Keywords

Klippel-Feil syndrome, Klippel-Feil disease, Klippel Feil, low hairline, short neck, cervical spine disorder, synkinesia, Klippel Feil syndrome

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Contributor Information and Disclosures

Author

J Andy Sullivan, MD, Clinical Professor of Pediatric Orthopedics, Department of Orthopedic Surgery, University of Oklahoma College of Medicine
J Andy Sullivan, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, American Orthopaedic Association, Oklahoma State Medical Association, and Pediatric Orthopaedic Society of North America
Disclosure: Nothing to disclose.

Medical Editor

K Daniel Riew, MD, Mildred B Simon Distinguished Professor of Orthopedic Surgery, Professor of Neurologic Surgery, Washington University School of Medicine; Chief, Cervical Spine Surgery, Department of Orthopedic Surgery, Barnes-Jewish Hospital
K Daniel Riew, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, AO Foundation, Cervical Spine Research Society, North American Spine Society, and Scoliosis Research Society
Disclosure: Medtronic Grant/research funds None; Medtronic Royalty Medtronic Vertex; Biomet Royalty Maxan anterior cervical plate; Osprey Royalty Interbody Graft; Osprey Ownership interest Consulting; SpineMedica Consulting fee Consulting

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

William O Shaffer, MD, Professor, Vice-Chairman and Residency Program Director, Department of Orthopedic Surgery, University of Kentucky at Lexington
William O Shaffer, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, International Society for the Study of the Lumbar Spine, Kentucky Medical Association, Kentucky Orthopaedic Society, North American Spine Society, Southern Medical Association, and Southern Orthopaedic Association
Disclosure: DePuySpine 1997-2007 (not presently) Royalty Consulting; DePuySpine 2002-2007 (closed) Grant/research funds SacroPelvic Instrumentation Biomechanical Study; DePuyBiologics 2005-2008 (closed) Grant/research funds Healos study just closed; No present Industry grants or funds. None None

CME Editor

Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital
Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Mary Ann E Keenan, MD, Professor, Vice Chair for Graduate Medical Education, Department of Orthopedic Surgery, University of Pennsylvania School of Medicine; Chief of Neuro-Orthopedics Program, Department of Orthopedic Surgery, Hospital of the University of Pennsylvania
Mary Ann E Keenan, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, American Society for Surgery of the Hand, and Orthopaedic Rehabilitation Association
Disclosure: Nothing to disclose.

 
 
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