Klippel â€“ Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature

Ramush Bejiqi; Ragip Retkoceri; Hana Bejiqi; Naim Zeka

doi:10.3889/oamjms.2015.022

Authors

Ramush Bejiqi Division of Cardiology, Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo
Ragip Retkoceri Division of Cardiology, Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo
Hana Bejiqi Main Center of Family Medicine, Prishtina, Republic of Kosovo
Naim Zeka Division of Cardiology, Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo

DOI:

https://doi.org/10.3889/oamjms.2015.022

Keywords:

Klippel-Feil syndrome, short neck, low hairline, congenital heart disease

Abstract

First time described in 1912, from Maurice Klippel and Andre Feil independently, Klippel-Feil syndrome (synonyms: cervical vertebra fusion syndrome, Klippel-Feil deformity, Klippel-Feil sequence disorder) is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.

Since first classification from Feil in three categories (I â€“ III) other classification systems have been advocated to describe the anomalies, predict the potential problems, and guide treatment decisions. Patients with Klippel-Feil syndrome usually present with the disease during childhood, but may present later in life. The challenge to the clinician is to recognize the associated anomalies that can occur with Klippel-Feil syndrome and to perform the appropriate workup for diagnosis.

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References

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. 2006;31(11):E335-8. DOI: https://doi.org/10.1097/01.brs.0000217628.32344.73

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. 2006;31(21):E798-804. DOI: https://doi.org/10.1097/01.brs.0000239222.36505.46

Klimo P Jr, Rao G, Brockmeyer D. Congenital anomalies of the cervical spine. Neurosurg Clin N Am. 2007;18(3):463-78. DOI: https://doi.org/10.1016/j.nec.2007.04.005

Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH. The extent of fusion within the congenital Klippel-Feil segment. Spine (Phila Pa 1976). 2008;33(15):1637-42. DOI: https://doi.org/10.1097/BRS.0b013e31817c0bc2

Samartzis D, Lubicky JP, Herman J, Shen FH. 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. Spine J. 2007;7(1):135-7. DOI: https://doi.org/10.1016/j.spinee.2006.05.019

Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004;(424):183-90. DOI: https://doi.org/10.1097/01.blo.0000130267.49895.20

Neidengard L, Carter TE, Smith DW. Klippel-Feil malformation complex in fetal alcohol syndrome. Am J Dis Child. 1978;132(9):929-30. DOI: https://doi.org/10.1001/archpedi.1978.02120340105024

Schilgen M, Loeser H. Klippel-Feil anomaly combined with fetal alcohol syndrome. Eur Spine J. 1994;3(5):289-90. DOI: https://doi.org/10.1007/BF02226582

Stadnicki G, Rassumowski D. The association of cleft palate with the Klippel-Feil syndrome. Oral Surg Oral Med Oral Pathol. 1972;33(3):335-40. DOI: https://doi.org/10.1016/0030-4220(72)90462-8

Tredwell SJ, Smith DF, Macleod PJ, et al. Cervical spine anomalies in fetal alcohol syndrome. Spine. 1982;7(4):331-4. DOI: https://doi.org/10.1097/00007632-198207000-00002

Gunderson CH, Greenspan RH, Glaser GH, et al. The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine (Baltimore). 1967;46(6):491-512. DOI: https://doi.org/10.1097/00005792-196711000-00003

Samartzis D, Herman J, Lubicky JP, Shen FH. Sprengel's deformity in Klippel-Feil syndrome. Spine. 2007;32(18):E512-6. DOI: https://doi.org/10.1097/BRS.0b013e318133fcf8

Drvaric DM, Ruderman RJ, Conrad RW, et al. Congenital scoliosis and urinary tract abnormalities: are intravenous pyelograms necessary? J Pediatr Orthop. 1987;7(4):441-3. DOI: https://doi.org/10.1097/01241398-198707000-00012

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. 2008;33(12):1366-71. DOI: https://doi.org/10.1097/BRS.0b013e3181732a22

Yi S, Kim SH, Shin HC, Kim KN, Yoon DH. Cervical arthroplasty in a patient with Klippel-Feil syndrome. Acta Neurochir (Wien). 2007;149(8):805-9; discussion 809. DOI: https://doi.org/10.1007/s00701-007-1115-7

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. DOI: https://doi.org/10.1007/BF00185222

Thompson E, Haan E, Sheffield L. Autosomal dominant Klippel-Feil anomaly with cleft palate. Clin Dysmorph. 1998;7: 11-15. DOI: https://doi.org/10.1097/00019605-199801000-00002

Lubs HA, Jr, Gunderson CH, Greenspan RH. Genetic reevaluation of fused cervical vertebrae (Klippel-Feil anomaly). Clin Res. 1963;11: 179.

Juberg RC, Gershanik JJ. Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents. J Med Genet. 1976;13: 246-249. DOI: https://doi.org/10.1136/jmg.13.3.246

Chemke J, Nisani R, Fischel RE. Absent ulna in the Klippel-Feil syndrome: an unusual associated malformation. Clin Genet. 1980;17: 167-170. DOI: https://doi.org/10.1111/j.1399-0004.1980.tb00127.x

da-Silva EO. Autosomal recessive Klippel-Feil syndrome. J Med Genet. 1982;19: 130-134. DOI: https://doi.org/10.1136/jmg.19.2.130

Fragoso R, Cid-Garcia A, Hernandez A, Nazara Z, Cantu JM. Frontonasal dysplasia in the Klippel-Feil syndrome: a new associated malformation. Clin Genet. 1982;22: 270-273. DOI: https://doi.org/10.1111/j.1399-0004.1982.tb01444.x

Clarke RA, Catalan G, Diwan AD, Kearsley JH. Heterogeneity in Klippel-Feil syndrome: a new classification. Pediatr Radiol. 1998;28: 967-974. DOI: https://doi.org/10.1007/s002470050511

Erol M, Caksen H, Tan O, Atik B, Unal O, Odabas D. Report of a girl with Klippel-Feil syndrome and Poland anomaly. Genet Counsel. 2004;15: 469-472.

Ohashi H, Wakui K, Nishimoto H, Sato M, Aihara T, Nishida T, Fukushima Y. Klippel-Feil syndrome and de novo balanced autosomal translocation [46,XX,t(5,17)(q11.2;q23)]. Am J Hum Genet. 1992;51(suppl.): A294.

Bejiqi R, Retkoceri R, Bejiqi H, Zeka N, Maloku A, Berisha M. Klippel â€“ Feil Syndrome Associated with Atrial Septal Defect. Med Arh. 2013; 67(2): 141-142. DOI: https://doi.org/10.5455/medarh.2013.67.141-142