지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
이용수
초록· 키워드
오류제보하기
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.
목차
등록된 정보가 없습니다.
참고문헌 (22)
참고문헌 신청
Strømme P / 2002 / Prevalence estimation of Williams syndrome / J Child Neurol 17:269~271
Beuren AJ / 1962 / Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance / Circulation 26:1235~1240
Bongiovanni AM / 1957 / Idiopathic hypercalcemia of infancy, with failure to thrive: report of three cases, with a consideration of the possible etiology / N Engl J Med 257:951~958
Marler JA / 2005 / Sensorineural hearing loss in children and adults with Williams syndrome / Am J Med Genet A 135:318~327
Klein AJ / 1990 / Hyperacusis and otitis media in individuals with Williams syndrome / J speech Hear disorder 55:339~344
Beuren AJ / 1962 / Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance / Circulation 26:1235~1240
Bongiovanni AM / 1957 / Idiopathic hypercalcemia of infancy, with failure to thrive: report of three cases, with a consideration of the possible etiology / N Engl J Med 257:951~958
Marler JA / 2005 / Sensorineural hearing loss in children and adults with Williams syndrome / Am J Med Genet A 135:318~327
Klein AJ / 1990 / Hyperacusis and otitis media in individuals with Williams syndrome / J speech Hear disorder 55:339~344
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