- A Case of Unusual Form of Williams Syndrome
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Kim NK, Lim DH, Kim JH, Kang SU
- KMID: 2093284
- Korean Circ J.
- 1991 Apr;21(2):361-366.
- doi: 10.4070/kcj.1991.21.2.361
Williams syndrome is a progressive and multisystemic disorder. We experienced one case of Willams syndrome which was characterized by elfin facies, mental retardation, diffuse aortic hypoplasia, mitral regurgitation and chronic... -
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- Williams Syndrome with Multiple Cervical Vertebral Fusion Presenting Dysphagia: A Case Report
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Jang BH, Hwang CH
- KMID: 2394672
- J Korean Dysphagia Soc.
- 2017 Jul;7(2):65-68.
- doi: 10.0000/jkdps.2017.7.2.65
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... -
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- Anesthetic Care of a Patient with Williams Syndrome-Underwent Preauricular Fistulectomy and Medial Rectus Resection: A case report
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Yeo JS, Shin YH, Ahn HJ, Chung IS
- KMID: 1936835
- Korean J Anesthesiol.
- 2005 Nov;49(5):716-719.
- doi: 10.4097/kjae.2005.49.5.716
Williams syndrome, initially described by Williams et al. in 1961 is associated with characteristic dysmorphic features, congenital heart disease, distinctive behavior, and emotional traits. Sudden death has been reported perioperatively... -
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- Williams Syndrome with Ocular Manifestations
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Lee SK, Hong H, Lyu IJ
- KMID: 2388193
- J Korean Ophthalmol Soc.
- 2017 Aug;58(8):1008-1011.
- doi: 10.3341/jkos.2017.58.8.1008
PURPOSE: To report two cases of Williams syndrome with ocular manifestations CASE SUMMARY: A 5-year-old boy who was diagnosed with Williams syndrome visited our hospital for ophthalmic examination. Best corrected visual... -
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- A Case of Supravalvular Aortic Stenosis (Williams Syndrome)
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Ryu CJ, Cha TS, Kim DS, Sul JH, Coe CJ, Lee SK, Chin DS, Choe KO, Hong SN
- KMID: 2229633
- Korean Circ J.
- 1985 Jun;15(2):345-352.
- doi: 10.4070/kcj.1985.15.2.345
Williams syndrome(Williams-Beuren Syndrome, Williams elfin facies syndrome) is a rare syndrome and this is the first case in Korea. We experienced a case of Williams syndrome who was a 11... -
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- Detection of microdeletion of elastin gene in patients with Williams syndrome and their family by fluorescent in situ hybridization and evaluation of clinical manifestations
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Kim HS
- KMID: 2227379
- Korean Circ J.
- 2000 Apr;30(4):507-516.
- doi: 10.4070/kcj.2000.30.4.507
BACKGROUND: Williams syndrome is characterized by supravalvular aortic stenosis, mental retardation and peculiar facial appearance. Its genetic etiology is considered to be hemizygotic deletion in Chromosome 7q11.23 which includes the... -
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- A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome
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DoÄŸan OA, ÅžimÅŸek Kiper PO, Utine GE, AlikaÅŸifoÄŸlu M, BoduroÄŸlu K
- KMID: 2377483
- Korean J Fam Med.
- 2017 Mar;38(2):102-105.
- doi: 10.4082/kjfm.2017.38.2.102
Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is... -
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- A Case of Williams Syndrome Diagnosed by FISH
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Kim H, Lee WS, Lee WB
- KMID: 2104405
- J Korean Pediatr Soc.
- 1998 Oct;41(10):1433-1437.
Williams syndrome was first reported in 1961, it is characterized by distinct facial changes, growth deficiency, mental retardation, congenital heart defect (particularly the supravalvular aortic stenosis), associated at times with... -
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- Williams Syndrome with Megacoronary Artery
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Choi JY, Youn HJ, Oh YS, Lee JM, Chung WS, Kim CM, Park IS, Lee SH, Kwack MS, Hong SJ
- KMID: 2204354
- J Korean Soc Echocardiogr.
- 2000 Dec;8(2):241-246.
Supravalvular aortic stenosis is a rare cause of left ventricular outflow obstruction in adults. It occurs as an isolated defect sporadically or as a hereditary basis with an autosomal dominant... -
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- Unpredictable Postoperative Global Cerebral Infarction in the Patient of Williams Syndrome Accompanying Moyamoya Disease
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Sim YW, Lee MS, Kim YG, Kim DH
- KMID: 1963620
- J Korean Neurosurg Soc.
- 2011 Sep;50(3):256-259.
- doi: 10.3340/jkns.2011.50.3.256
We report a rare case of Williams syndrome accompanying moyamoya disease in whom postoperative global cerebral infarction occurred unpredictably. Williams syndrome is an uncommon hereditary disorder associated with the connective... -
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- Microdeletion of Chromosome 7 in Williams Syndrome and Supravalvular Aortic Stenosis
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Kim HS, Kang YS, Noh CI, Choi JY, Yun YS, Lee KH
- KMID: 1946323
- J Korean Pediatr Soc.
- 1999 Jan;42(1):47-59.
PURPOSE: Williams syndrome is characterized by supravalvular aortic stenosis, mental retardation and peculiar facial appearance. Its genetic etiology is considered to be a hemizygotic deletion in Chromosome 7q11.23, which includes... -
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- Considerations for dental treatment of Williams syndrome patients
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Shin J, Lee J
- KMID: 2430548
- J Korean Acad Oral Health.
- 2018 Dec;42(4):238-241.
- doi: 10.11149/jkaoh.2018.42.4.238
Williams syndrome is a rare congenital disorder with various physical abnormalities and characterized by facial, oral, and dental features. Individuals with Williams syndrome typically have eating disorders in the early... -
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- Early Manifestation of Supravalvular Aortic and Pulmonary Artery Stenosis in a Patient with Williams Syndrome
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Lee JU, Jang WS, Lee YO, Cho JY
- KMID: 2161807
- Korean J Thorac Cardiovasc Surg.
- 2016 Apr;49(2):115-118.
- doi: 10.5090/kjtcs.2016.49.1.115
Williams syndrome (WS) is a developmental disorder characterized by vascular abnormalities such as thickening of the vascular media layer in medium- and large-sized arteries. Supravalvular aortic stenosis (SVAS) and peripheral... -
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- Genetic Syndromes associated with Congenital Heart Disease
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Ko JM
- KMID: 2223797
- Korean Circ J.
- 2015 Sep;45(5):357-361.
- doi: 10.4070/kcj.2015.45.5.357
Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently... -
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- A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome
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Dayal D, Giri D, Senniappan S
- KMID: 2409802
- Ann Pediatr Endocrinol Metab.
- 2017 Mar;22(1):65-67.
- doi: 10.6065/apem.2017.22.1.65
Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS). We report a 10-month-old boy... -
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- Comparing Two Diagnostic Laboratory Tests for Several Microdeletions Causing Mental Retardation Syndromes: Multiplex Ligation-Dependent Amplification vs Fluorescent In Situ Hybridization
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Cho EH, Park BY, Cho JH, Kang YS
- KMID: 1781597
- Korean J Lab Med.
- 2009 Feb;29(1):71-76.
- doi: 10.3343/kjlm.2009.29.1.71
BACKGROUND: Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure... -
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- Anesthetic Management of Two Patients with Williams Syndrome: Two cases reports
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Kwak HJ, Kim JY, Lee KC, Kim JC, Lee KH, Kwak YL
- KMID: 2091981
- Korean J Anesthesiol.
- 2005 Mar;48(3):311-314.
- doi: 10.4097/kjae.2005.48.3.311
Williams syndrome is a rare genetic disorder with a frequency of one per 20,000-50,000 live births. It is caused by a deletion of one elastin allele located within chromosome subunit... -
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- Cognitive Profile of Children with Williams Syndrome: Comparison with Children with Prader-Willi Syndrome and Down Syndrome
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Yim SY, Cho KH, Kim HJ
- KMID: 2135611
- J Genet Med.
- 2010 Jun;7(1):45-52.
PURPOSE: The objectives were to examine following 2 questions related to cognitive profile for the children with Williams syndrome (WS); 1) Is there a significant advantage for verbal IQ over... -
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- Diffuse Supravalvar Aortic Stenosis Associated with Congenital Anomaly of the Aortic Valve (Williams Syndrome): 1 case report
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Kim SC, Chon SH, Lee SK, Kim WS, Oh SS, Lee YT, Kim WH, Baek MJ, Jeon YB, Lee CH, Na CY, Park YK, Kim CW
- KMID: 2062522
- Korean J Thorac Cardiovasc Surg.
- 2000 Sep;33(9):748-751.
The diffuse form of supravalvar aortic stenosis represents a surgical challenge when the ascending aorta, aortic arch, proximal descending thoracic aorta and arch arteries are involved. It can be treated... -
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- Williams Syndrome in an Infant An autopsy case report
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Kie JH, Kim SH, Choi JY, Cho SH
- KMID: 2275692
- Korean J Pathol.
- 1999 Nov;33(11):1090-1093.
Williams syndrome is a congenital disorder characterized by mental retardation, loquacious personalities, dysmorphic face, and vascular and valvular abnormalities. The etiology of this syndrome was one allelic loss of elastin... -
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