Citation Information :
Mukherjee S, Sasmal S, Mandal PK. Klippel–Feil Syndrome with Benign Hypermobile Joint Disease in a Young Indian Female: A Rare Case Report. Indian J Phy Med Rehab 2019; 30 (2):49-53.
Klippel–Feil syndrome (KFS) is a congenital segmentation anomaly of cervical vertebra leading to vertebral fusion, often accompanied by other systemic anatomical and functional anomalies. Benign hypermobile joint syndrome (BHJS) is a frequently overlooked cause of chronic musculoskeletal pain. Early identification and management of both conditions are essential to prevent long-term damage and suffering due to chronic pain and impaired activities of daily living (ADLs). The authors present this rare case report of KFS with BHJS in a young Indian female.
Mulvey MR, Macfarlane GJ, Beasley M, et al. Modest association of joint hypermobility with disabling and limiting musculoskeletal pain: results from a large-scale general population-based survey. Arthritis Care Res (Hoboken) 2013;65(8):1325–1333. DOI: 10.1002/acr.21979.
Grahame R. The revised (brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol 2000;27:1777–1779.
Rimoin DL, Connor JM, Pyeritz RE. Emery and Rimoin's principles and practice of medical genetics, 3rd ed., New York: Churchill Livingstone; 1996.
Guille JT, Miller A, Bowen JR, et al. The natural history of Klippel-Feil syndrome: clinical, roentgenographic, and magnetic resonance imaging findings at adulthood. J Pediatr Orthop 1995;15(5):617–626. DOI: 10.1097/01241398-199509000-00014.
Samartzis D, Herman J, Lubicky JP, et al. 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–E804. DOI: 10.1097/01.brs.0000239222.36505.46.
Laker SR, Concannon LG. Radiologic evaluation of the neck: a review of radiography, ultrasonography, computed tomography, magnetic resonance imaging, and other imaging modalities for neck pain. Physical Medicine and Rehabilitation Clinics 2011;22(3):411–428. DOI: 10.1016/j.pmr.2011.03.010.
Ulmer JL, Elster AD, Ginsberg LE. Klippel-Feil syndrome: CT and MR of acquired and congenital abnormalities of cervical spine and cord. J Comput Assist Tomogr 1993;17(2):215–224. DOI: 10.1097/00004728-199303000-00010.
Theiss SM, Smith MD, Winter RB. The long-term follow-up of patients with Klippel-Feil syndrome and congenital scoliosis. Spine 1997;22(11):1219–1222. DOI: 10.1097/00007632-199706010-00009.
Camerota F, Galli M, Cimolin V, et al. The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/ehlers–danlos syndrome hypermobility type. Ther Adv Musculoskelet Dis 2015;7(1):3–10. DOI: 10.1177/1759720X14564561.
McCormack M, Briggs J, Hakim A, et al. Joint laxity and the benign joint hypermobility syndrome in student and professional ballet dancers. J Rheumatol 2004;31(1):173–178.
Castori M, Morlino S, Pascolini G, et al. Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers–danlos syndrome, hypermobility type. Am J Med Genet C Semin Med Genet 2015;169(1):54–75. DOI: 10.1002/ajmg.c.31431.