Stephen J. Schueler, M.D.

Overview Incidence Risk Factors Symptoms Evaluation physical findings Treatment specialist Prevention Outlook Complications Underlying Cause Genetics

Mongolism Evaluation

Evaluation of Down's syndrome begins with a medical history and physical examination.

The diagnosis of Down's syndrome can be made during physical exam, but must be confirmed with genetic testing. Additional tests are performed, in order to evaluate the heart and gastrointestinal tract.

Tests that may be used to evaluate Down's syndrome include:

  • Chromosome studies, known as a karyotype, will be necessary to confirm the genetic diagnosis of Down's.
  • An echocardiogram is often required to detect congenital heart abnormalities.
  • Gastrointestinal x-rays and other imaging tests

Mongolism Physical Findings

The physical findings in a person with Down's syndrome include:

  • Head and face abnormalities
    • Small head
    • Flattened nose
    • Enlarged tongue
    • Upward slanting eyes
  • Growth retardation
  • Mental retardation
  • Short hands with broad fingers
  • Short legs with broad feet
  • Single palmar crease

Continue to Mongolism Treatment

Last Updated: Jun 18, 2008 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Mongolism References
  1. Bahado-Singh RO, Sutton-Riley J. Biochemical screening for congenital defects. Obstet Gynecol Clin North Am. 2004 Dec;31(4):857-72, xi. [15550339]
  2. Matias A, Montenegro N, Blickstein I. Down syndrome screening in multiple pregnancies. Obstet Gynecol Clin North Am. 2005 Mar;32(1):81-96, ix. [15644291]
  3. Taub JW, Ge Y. Down syndrome, drug metabolism and chromosome 21. Pediatr Blood Cancer. 2005 Jan;44(1):33-9. [15390307]
  4. Tyler C, Edman JC. Down syndrome, Turner syndrome, and Klinefelter syndrome: primary care throughout the life span. Prim Care. 2004 Sep;31(3):627-48, x-xi. [15331252]
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