scholarly journals Supravalvular Aortic Stenosis in Association with Mental Retardation and a Certain Facial Appearance

Circulation ◽  
1962 ◽  
Vol 26 (6) ◽  
pp. 1235-1240 ◽  
Author(s):  
A. J. BEUREN ◽  
J. APITZ ◽  
D. HARMJANZ
Keyword(s):  
Mental Retardation ◽  
Aortic Stenosis ◽  
Supravalvular Aortic Stenosis ◽  
Facial Appearance

scholarly journals The Syndrome of Supravalvular Aortic Stenosis, Peripheral Pulmonary Stenosis, Mental Retardation, and Characteristic Facies

1970 ◽  
Vol 34 (2) ◽  
pp. 109-115 ◽  
Author(s):  
KUNITAKE HASHIBA ◽  
AKIO ONO ◽  
SHUZO MATSUO ◽  
MASATO YOSHIOKA ◽  
KIYOSHI MORI ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Aortic Stenosis ◽  
Pulmonary Stenosis ◽  
Supravalvular Aortic Stenosis ◽  
Peripheral Pulmonary Stenosis

scholarly journals Williams-Beuren syndrome: Report of two cases with molecular diagnosis

2011 ◽  
pp. 523-528
Author(s):  
Carolina Vargas ◽  
Wilmar Saldarriaga ◽  
Harry Mauricio Pachajoa ◽  
Carolina Isaza
Keyword(s):  
Mental Retardation ◽  
In Situ Hybridization ◽  
Aortic Stenosis ◽  
Candidate Genes ◽  
Molecular Diagnosis ◽  
Fluorescent In Situ Hybridization ◽  
Chromosome 7 ◽  
Supravalvular Aortic Stenosis ◽  
Syndrome Report

Williams-Beuren syndrome has an estimated incidence of one case in every 10,000 births. It is secondary to microdeletion of a fragment in the long arm of chromosome 7, which contains several candidate genes for the characteristic phenotype of typical facies, supravalvular aortic stenosis, and variable mental retardation with a friendly personality. This article focuses on the report of two cases, with classic but varied phenotypic findings, of this syndrome for which molecular diagnosis with fluorescent in situ hybridization was available. Additionally, we suggest a protocol for complementary studies needed to characterize each patient.

AORTIC ANEURYSMS AS A LATE COMPLICATION IN THE SYNDROME OF SUPRAVALVULAR AORTIC STENOSIS, PECULIAR FACIES AND MENTAL RETARDATION

1973 ◽  
Vol 119 (3) ◽  
pp. 524-529 ◽  
Author(s):  
FELIX WYLER ◽  
MARKUS RUTISHAUSER ◽  
CHRISTIAN FLIEGEL ◽  
SAMUEL BUCHS ◽  
ERICH GRÄDEL
Keyword(s):  
Mental Retardation ◽  
Aortic Stenosis ◽  
Late Complication ◽  
Aortic Aneurysms ◽  
Supravalvular Aortic Stenosis

Vitamin D and Infantile Hypercalcemia

PEDIATRICS ◽  
1968 ◽  
Vol 42 (1) ◽  
pp. 203-204
Author(s):  
Gilbert B. Forbes ◽  
Cenie Cafarelli ◽  
James Manning
Keyword(s):  
Vitamin D ◽  
Mental Retardation ◽  
Aortic Stenosis ◽  
Severe Form ◽  
The Other ◽  
Supravalvular Aortic Stenosis ◽  
Recent Experience ◽  
Other Hand ◽  
Aortic Lesions

The etiology of the severe form of this syndrome ( which includes supravalvular aortic stenosis, peculiar facies, and mental retardation) is still a matter of debate. Particularly vexing is the possible relationship to vitamin D. Massive amounts (of the order of 104 units per kilogram daily) given to pregnant or young animals have led to aortic lesions,1,2 and it is postulated (that the human syndrome may represent a form of hypersensitivity to the vitamin. On the other hand, Fraser, et al.3 and Antia, et al.4 are of the opinion that the evidence See Table in PDF file does not warrant such an implication. A recent experience of ours supports the latter view.

scholarly journals Modeling Supravalvular Aortic Stenosis Syndrome With Human Induced Pluripotent Stem Cells

Circulation ◽  
2012 ◽  
Vol 126 (14) ◽  
pp. 1695-1704 ◽  
Author(s):  
Xin Ge ◽  
Yongming Ren ◽  
Oscar Bartulos ◽  
Min Young Lee ◽  
Zhichao Yue ◽  
...  
Keyword(s):  
Stem Cells ◽  
Aortic Stenosis ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Supravalvular Aortic Stenosis ◽  
Induced Pluripotent

Familial Supravalvular Aortic Stenosis

CHEST Journal ◽  
1976 ◽  
Vol 70 (4) ◽  
pp. 494-500 ◽  
Author(s):  
Lewis W. Johnson ◽  
Ronald A. Fishman ◽  
Bernard Schneider ◽  
Frederick B. Parker ◽  
George Husson ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Supravalvular Aortic Stenosis
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