Testing & Diagnosis for Saethre-Chotzen Syndrome in Children

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Tests

How is Saethre-Chotzen syndrome diagnosed?

Your child's doctor can typically diagnose Saethre-Chotzen syndrome at birth by the physical signs.

Diagnostic tests that may be performed to confirm the diagnosis include:

  • X-ray - A diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs on film.
  • Computerized tomography scan (Also called a CT or CAT scan) - A CT scan shows detailed images of any part of the body, including the bones, muscles, fat and organs. CT scans are more detailed than general x-rays.

Your doctor can also use a blood sample to make a definitive genetic diagnosis.

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