Congenital heart defects in williams syndrome
نویسندگان
چکیده
منابع مشابه
Congenital heart defects in Williams syndrome.
Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017; 59: 225-232. Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenge...
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Background The prevalence of celiac disease (CD) is remarkably varied in Down syndrome(DS)patientscompared with other diseases. This study aimed to assess celiac disease prevalence in Down syndrome children with and without congenital heart defects (CHD) and its comparison with controls. Materials and Methods This case-control study was performed at a single center on 132 participants in three...
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BACKGROUND Kabuki syndrome (KS) is an entity of multiple congenital malformations with mental retardation with undetermined etiology. Congenital heart defects are one of the clinical manifestations of KS with insufficient elucidations. METHODS Literature of congenital heart defects associated with KS was comprehensively retrieved, collected and reviewed. The clinical features of the congenita...
متن کاملTrends in Congenital Heart Defects in Infants With Down Syndrome.
BACKGROUND As a result of antenatal screening, abortion of fetuses with Down syndrome has become increasingly common. Little is known about the cardiovascular phenotype in infants with Down syndrome born today. METHODS Population-based cohort study based on national health registers including 2588 infants with Down syndrome, live-born in Sweden from 1992 to 2012. Risk ratios for congenital he...
متن کاملPrenatally detectable congenital heart defects in fetuses with Down syndrome.
OBJECTIVE To document the incidence of congenital heart defects (CHD) that are detectable echocardiographically in the fetus with trisomy 21 and the relationship with nuchal translucency, fetal sex and ethnicity. METHODS Data on fetuses with a karyotypic diagnosis of trisomy 21 were collected between January 2002 and March 2010. The data were analyzed for the gestational age at examination, m...
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ژورنال
عنوان ژورنال: The Turkish Journal of Pediatrics
سال: 2017
ISSN: 0041-4301
DOI: 10.24953/turkjped.2017.03.001