Williams 증후군에 동반된 다발 경부 척추 유합증에 의한 연하곤란 - 증례보고
Williams Syndrome with Multiple Cervical Vertebral Fusion Presenting Dysphagia - A Case Report
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Williams syndrome is a multiple-system disorder, caused by deletion of the locus 7q11-23 gene and characterized by an ‘elfin’ facial appearance, developmental delay, cardiovascular disorders, and transient hypercalcemia. Vertebral abnormalities in Williams syndrome have not been reported yet, except for one case report on cervical stenosis at the C1 level. In this case, the authors incidentally found Williams syndrome with the fusion of the fifth and sixth cervical vertebrae and an associated dysphagia showing delayed, forward-deviating esophageal passage during a videofluoroscopic swallowing study. The authors could not confirm whether the multiple cervical vertebrae fusion was related with the Williams syndrome or was just incidental. However, because physiatrists frequently encounter children with Williams syndrome and numerous kinds of developmental delay, if a patient with Williams syndrome suffers from swallowing difficulty, evaluation of dysphagia and cervical abnormalities should be considered. The present authors report the case of multiple cervical vertebral fusion in Williams syndrome.
Abstract
Williams syndrome is a multiple-system disorder, caused by deletion of the locus 7q11-23 gene and characterized by an ‘elfin’ facial appearance, developmental delay, cardiovascular disorders, and transient hypercalcemia. Vertebral abnormalities in Williams syndrome have not been reported yet, except for one case report on cervical stenosis at the C1 level. In this case, the authors incidentally found Williams syndrome with the fusion of the fifth and sixth cervical vertebrae and an associated dysphagia showing delayed, forward-deviating esophageal passage during a videofluoroscopic swallowing study. The authors could not confirm whether the multiple cervical vertebrae fusion was related with the Williams syndrome or was just incidental. However, because physiatrists frequently encounter children with Williams syndrome and numerous kinds of developmental delay, if a patient with Williams syndrome suffers from swallowing difficulty, evaluation of dysphagia and cervical abnormalities should be considered. The present authors report the case of multiple cervical vertebral fusion in Williams syndrome.
참고문헌 (22)
- Strømme P, "Prevalence estimation of Williams syndrome", J Child Neurol, 17, pp.269~271 (2002)
- Beuren AJ, "Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance", Circulation, 26, pp.1235~1240 (1962)
- Bongiovanni AM, "Idiopathic hypercalcemia of infancy, with failure to thrive: report of three cases, with a consideration of the possible etiology", N Engl J Med, 257, pp.951~958 (1957)
- Marler JA, "Sensorineural hearing loss in children and adults with Williams syndrome", Am J Med Genet A, 135, pp.318~327 (2005)
- Klein AJ, "Hyperacusis and otitis media in individuals with Williams syndrome", J speech Hear disorder, 55, pp.339~344 (1990)
- Cherniske EM, "Multisystem study of 20 older adults with Williams syndrome", Am J Med Genet A, 131, pp.255~264 (2004)
- Sammour ZM, "Congenital genitourinary abnormalities in children with Williams-Beuren syndrome", J Pediatr Urol, 10, pp.804~809 (2014)
- Copes LE, "Description of common musculoskeletal findings in Williams syndrome and implication for therapies", Clin Anat, 29, pp.578~589 (2016)
- Desai SK, "Isolated cervical spinal canal stenosis at C-1 in the pediatric population and in Williams syndrome", J Neurosurg Spine, 18, pp.558~563 (2013)
- Leim K, "Functional anatomy of the vertebrates" (2001), Harcourt College Publishers
- Dino S, "“Clinical triad” findings in pediatric Klippel-Feil patients", Scoliosis Spinal Disord, 11, pp.15~ (2016)
- Oda T, "Mutations in the human Jagged1 gene are responsible for Alagille syndrome", Nat Genet, 16, pp.235~242 (1997)
- Kamath BM, "NOTCH2 mutations in Alagille syndrome", J Med Genet, 49, pp.138~144 (2012)
- Cornier AS, "Controversies surrounding Jarcho-Levin syndrome", Curr Opin Pediatr, 15, pp.614~620 (2003)
- Mridula G, "Goldenhar Syndrome: A Case Report with Review", Int J Clin Pediatr Dent, 9, pp.278~280 (2016)
- Solomon BD, "VACTERL", VATER Association, 2011, pp.6, 56~
- Keith LM, "The developing human" (2015), Elsvier
- Hwang CH, "Velopharyngeal incoordination caused by phenytoin-induced toxicity", Am J Phys Med Rehabil, 96, pp.e24~e27 (2017)
- Choi DY, "Anatomical considerations of the longitudinal pharyngeal muscles in relation to their function on the internal surface of pharynx", Dysphagia, 29, pp.722~730 (2014)
- Cooper-Brown L, "Feeding and swallowing dysfunction in genetic syndromes", Dev Disabil Res Rev, 14, pp.147~157 (2008)
- Scharli AF, "Dysphagia in childhood", Ther Umsch, 48, pp.182~187 (1991)
- Simons JP, "Laryngomalacia and swallowing function in children", Laryngoscope, 126, pp.478~484 (2016)