How often is Klippel-Feil Syndrome associated with congential heart disease presentation of five cases and a review of the literature
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Abstract
Introduction: Klippel-Feil syndrome (KFS), 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. In some individuals, KFS can be associated with a variety of additional symptoms and physical abnormalities which contribute in the deterioration and complication of the condition of the child.
Aim of presentation: Here, we report five children from Kosovo with KFS associated with different heart abnormalities, clinical presentation, diagnosis, management, and outcomes of selected conditions in resources-limited settings.
Methods: Retrospectively we analysed medical reports of five children, diagnosed at different age with congenital disease and clinical and lab signs of Klippel-Feil syndrome.
Conclusion: Basing on our cases, all diagnosed in a small country as a Kosovo, we can conclude that KFS is not such a rare condition. In addition, such syndrome is not so rarely associated with different congenital heart disease. In four cases cardiac surgery was indicated and successfully was done abroad Kosovo in the lack of such services in Kosovo.
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Copyright (c) 2019 Bejiqi R, et al.
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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: E335-338. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/16688024 DOI: https://doi.org/10.1097/01.brs.0000217628.32344.73
Samartzis DD, Herman J, Lubicky JP, Shen FH. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine. 2006; 31: E798-80. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/17023841 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: 463-478. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/17678749 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: 1637-1642. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/18594455 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: 135-137. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/17269206 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: 183-190. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/15241163 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: 929-930. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/685915 DOI: https://doi.org/10.1001/archpedi.1978.02120340105024
Tassabehj M, Fang ZM, Hilton EN, Zhao Z. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat. 2008; 29: 1017-1027. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/18425797 DOI: https://doi.org/10.1002/humu.20741
Sullivan JA. Klippel-Feil syndrome Medscape. 2016.
Borujeni MJS, Purzaki M, Bakhtiari A, Sazegar G. A Rare Anatomical Variation of the Cervical Vertebrae Characterized by the Abnormal Fusion between C4 and C5. Global Journal of Medicine Researches and Studies. 2014; 1: 57-60.
Stadnicki G, Rassumowski D. The association of cleft palate with the Klippel-Feil syndrome. Oral Surg Oral Med Oral Pathol. 1972; 33: 335-340. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/4501166 DOI: https://doi.org/10.1016/0030-4220(72)90462-8
Shankar VV, Kulkarni RR. Block vertebrae: Fusion of axis with the third cervical vertebrae-a case report. Int J Anatomical Variations. 2011; 4: 15-18.
Krakov D. Spinal abnormalities and Klippel-Feil syndrome; Obstetric Imaging: Fetal Diagnosis and Care (second edition). 2018; 295-297. DOI: https://doi.org/10.1016/B978-0-323-44548-1.00060-7
Samartzis D, Herman J, Lubicky JP, Shen FH, Jonathan JM, et al. Sprengel's deformity in Klippel-Feil syndrome. Spine. 2007; 32: E512-516. PubMed: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5822809/ DOI: https://doi.org/10.1097/BRS.0b013e318133fcf8
Drvaric DM, Ruderman RJ, Conrad RW, Grossman H, Webster GD, et al. Congenital scoliosis and urinary tract abnormalities: are intravenous pyelograms necessary? J Pediatr Orthop. 1987; 7: 441-443. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/3301897 DOI: https://doi.org/10.1097/01241398-198707000-00012
Auerbach JD, Hosalkar HS, Kusuma SK, Wills BP, Dormans JP, et al. Spinal cord dimensions in children with Klippel-Feil syndrome: a controlled, blinded radiographic analysis with implications for neurologic outcomes. Spine. 2008; 33: 1366-1371. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/18496350 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: 805-809. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/17616843 DOI: https://doi.org/10.1007/s00701-007-1115-7
Baba H, Maezawa Y, Furusawa N, Chen Q, Imura S, et al. The cervical spine in the Klippel-Feil syndrome. A report of 57 cases. Int Orthop. 1995; 19: 204-208. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/8557413 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. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/9546824 DOI: https://doi.org/10.1097/00019605-199801000-00002
Lubs HA, Gunderson CH, Greenspan RH. Genetic re-evaluation 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. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/933127 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. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/7363502 DOI: https://doi.org/10.1111/j.1399-0004.1980.tb00127.x
Elias Oliveira DS. Autosomal recessive Klippel-Feil syndrome. J Med Genet. 1982; 19: 130-134. PubMed: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1048843/ 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. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/7151311 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. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/9880643 DOI: https://doi.org/10.1007/s002470050511
Bejiqi R, Retkoceri R, Bejiqi H, Zeka N, Maloku A, et al. Klippel - Feil Syndrome Associated with Atrial Septal Defect. Med Arh. 2013; 67: 141-142. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/24341064 DOI: https://doi.org/10.5455/medarh.2013.67.141-142
Erol M, Caksen H, Tan O, Atik B, Unal O, et al. Report of a girl with Klippel-Feil syndrome and Poland anomaly. Genet Counsel. 2004; 15: 469-472. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/15658624
McKusick VA. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University. 2014.
Bejiqi R, Retkoceri R, Bejiqi H, Zeka N, Klippel-Feil Syndrome Associated with Congential Heart Disease - Presentation of Cases and a Review of the Curent Literature, OAMJMS. 2015; 129-134. PubMed: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4877771/ DOI: https://doi.org/10.3889/oamjms.2015.022
Angeli E, Wagner J, Lawrick E, Moore K, Anderson M, et al. General format title. 2010.