• Search
  • Advanced Search

Search

  • HOME
  • Search
Original Article
Clinical Characteristics of Williams Syndrome
Choong Ho Shin, Ho Sung Kim, Sei Won Yang, Jung Yun Choi
Clin Exp Pediatr. 2001;44(4):443-449.   Published online April 15, 2001
Purpose : Williams syndrome(WS) is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. We evaluated the physical, neurodevelopmental, and behavioral characteristics of children and adults with WS confirmed by fluorescence in situ hybridization. Methods : The clinically suspicious twelve cases with cardiac anomaly were confirmed as WS with fluorescence in...
Microdeletion of Chromosome 7 in Williams Syndrome and Supravalvular Aortic Stenosis
Ho Sung Kim, Yoon Sung Kang, Kyung Hyo Kim, Young Mi Hong, Yong Soo Yun, Kwang Ho Lee
Clin Exp Pediatr. 1999;42(1):47-59.   Published online January 15, 1999
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 the elastin gene. We examined the hemizygotic deletion of Chromosome 7q11.23 in 12 Korean Williams syndrome patients and 8 patients with isolated supravalvular aortic stenosis and performed deletion mapping...
Case Report
A Case of Williams Elfin Facies Syndrome.
Kyung Jin Shin, Heon Seob Song, Byung Sook Park, In Soo Choi, Chan Uhng Joo, Jung Ku Jo
Clin Exp Pediatr. 1987;30(6):684-690.   Published online June 30, 1987
Williams elfin facies syndrome is a disorder which has previously designated as the pecular facies, mental retardation and supravalvular aortic stenosis. Supravalvular aortic stenosis is the least form of left ventricular outflow obstruction, originating at superior margin of sinuses of Valsalva just above the level of the coronary arteries. We had experienced a case of Williams elfin facies syndrome who had characteristic face, mental retardation...
A Case of Supravalvular Stenotic Ring of the Left Atrium associated with VSD and PDA.
Chung Il Noh, Jung Yun Choi, Yong Soo Yoon, Chang Yee Hong, Kyung Mo Yeon, Joon Ryang Rho
Clin Exp Pediatr. 1984;27(2):184-190.   Published online February 28, 1984
Supravalvular stenotic ring of the left atrium is one of the rare anomalies, which is usually accompanied by other cardiac defects. It is very important to recognize its existence earlier and preoperatively. Main tools in. diagnosis are angiocardiography and echocardiography. We have experienced a patient with supravalvular stenotic ring of the left atrium with coexisted with VSD and PDA. M-mode...
A case of Supravalvular Aortic Stenosis.
Moon Ja Kim, Yoon Joo Choi, Ja Young Park, Joo Gon Kim, Keun Lee, Seong Yul Yoo
Clin Exp Pediatr. 1982;25(11):1164-1169.   Published online November 30, 1982
Congenital supravalvular aortic stenosis is congenital narrowing of the ascending aorta that may be localized or diffuse, originating at superior margin of the sinuses of Valsalva just above the level of the coronary arteries. We have experienced a case of congenital supravalvular aortic stenosis who had characte- ristic face and mental retardation associated with aortic aneurysm. We have presented this case and reviewed the literature.
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)