Down Syndrome

Hunter, Alasdair G. W.

doi:10.1002/9780470893159.ch23

Cited by 7 publications

(4 citation statements)

References 83 publications

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“…Neurodevelopmental challenges include hypotonia, developmental delay, moderate mental retardation, visual impairment, and hearing loss. 60 Structural and functional anomalies of the gastrointestinal and genitourinary systems are common, as are hematologic disorders. 60 …”

Section: Down Syndromementioning

confidence: 99%

“…60 Structural and functional anomalies of the gastrointestinal and genitourinary systems are common, as are hematologic disorders. 60 …”

Section: Down Syndromementioning

confidence: 99%

“…60,66,67 Several reports identified an increased risk of MVP (45%), increased echogenicity of the mitral valve and aortic regurgitation in Down syndrome adults without previous history of CHD. 68 -71 Less commonly noted are aortic regurgitation or tricuspid valve prolapse.…”

Section: Cardiovascular Abnormalities In Adulthoodmentioning

confidence: 99%

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Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Lin

Basson

Goldmuntz

et al. 2008

Genetics in Medicine

133

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Cardiovascular abnormalities, especially structural congenital heart defects, commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected congenital heart defects such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis, and pulmonary stenosis. As these individuals age, they contribute to the growing population of adults with special health care needs. Although most will require longterm cardiology follow-up, primary care providers, geneticists, and other specialists should be aware of (1) the type and frequency of cardiovascular abnormalities, (2) the range of clinical outcomes, and (3) guidelines for prospective management and treatment of potential complications. This article reviews fundamental genetic, cardiac, medical, and reproductive issues associated with common genetic syndromes that are frequently associated with a cardiovascular abnormality. New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome. Genet Med 2008:10(7):469 -494.

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Section: Down Syndromementioning

confidence: 99%

“…60 Structural and functional anomalies of the gastrointestinal and genitourinary systems are common, as are hematologic disorders. 60 …”

Section: Down Syndromementioning

confidence: 99%

See 1 more Smart Citation

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Lin

Basson

Goldmuntz

et al. 2008

Genetics in Medicine

133

View full text Add to dashboard Cite

show abstract

“…に約 700 人に 1 人や約 2,000 人に 1 人のものもあるが、多くは 10,000 人に 1 人以下の希少疾患である(Boyd, Baker, Moxey, Anzivino, Young, Krieger, Matar, Moroz, & Ruiter, 2014;Hunter, 2010;加藤 , 2018) …”

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