Down syndrome

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Down syndrome
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Boy with Down syndrome assembling a bookcase
ICD-10 Q90.
ICD-9 758.0
OMIM 190685
DiseasesDB 3898
MedlinePlus 000997
MeSH D004314

Down syndrome Microchapters

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Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Down syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

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Laboratory Findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Down syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies | Sociological and Cultural Aspects

Sources

  • Arron, Joseph R., et al. (2006). NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Nature, 441: 595-599.
  • Epstein, Charles J. (2006). Critical Genes in Critical Region. Nature, 441: 582-583.
  • Ganong, W.J. (2005). Review of Medical Physiology. New York: Mc-Graw Hill. 
  • Nelson, David L., & Gibbs, Richard H. (2004). The Critical Region in Trisomy-21. Science, 306: 619-621.
  • Olson, L.E., Richtsmeier J.T., & Reeves R.H. (2004). A Chromosome-21 Critical Region Does Not Cause Specific Down Syndrome Phenotypes. Science, 306: 687-690.
  • Reeves, Roger H., et al. (2000). The DNA Sequence of Human Chromosome 21. Nature, 405: 311-319.
  • Underwood, J.C.E. (2004). General and Systematic Pathology. Edinburgh: Churchill Livingstone. 

Bibliography

  • Beck, M.N. (1999). Expecting Adam. New York: Berkley Books. 
  • Buckley, S. (2000). Living with Down Syndrome. Portsmouth, UK: The Down Syndrome Educational Trust. ISBN 1903806011. 
  • Down Syndrome Research Foundation (2005). Bright Beginnings: A Guide for New Parents. Buckinghamshire, UK: Down Syndrome Research Foundation. 
  • Dykens EM (2007). "Psychiatric and behavioral disorders in persons with Down syndrome". Ment Retard Dev Disabil Res Rev. 13 (3): 272–8. PMID 17910080. doi:10.1002/mrdd.20159. 
  • Hassold, T.J., D. Patterson, eds. (1999). Down Syndrome: A Promising Future, Together. New York: Wiley Liss.
  • Kingsley, J. (1994). Count Us In: Growing up with Down Syndrome. San Diego: Harcourt Brace.  Unknown parameter |coauthors= ignored (help)
  • Pueschel, S.M., M. Sustrova, eds. (1997). Adolescents with Down Syndrome: Toward a More Fulfilling Life. Baltimore, MD: Paul H. Brookes.
  • Selikowitz, M. (1997). Down Syndrome: The Facts (2nd edition ed.). Oxford, UK: Oxford University Press. 
  • Van Dyke, D.C. (1995). Medical and Surgical Care for Children with Down Syndrome. Bethesda, MD: Woodbine House.  Unknown parameter |coauthors= ignored (help)
  • Zuckoff, M. (2002). Choosing Naia: A Family's Journey. New York: Beacon Press. 

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