Craniosynostosis

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Tests and diagnosis

By Mayo Clinic staff

Your doctor will feel your baby's head for abnormalities such as suture ridges, perform a physical exam and look for facial deformities. In addition, your doctor may order other tests, including:

  • Imaging studies. X-rays or a computerized tomography (CT) scan of your baby's skull will show whether any sutures have fused. Fused sutures are identifiable by their absence, because they're invisible once fused, and by the ridging of the suture line.
  • Genetic testing. If your doctor suspects your baby's misshapen skull is caused by an underlying hereditary syndrome, genetic testing may help identify the syndrome. Genetic tests usually require a blood sample. Depending on what type of abnormality your doctor is looking for, your baby may be required to give a hair, skin or other tissue sample, such as cells from the inside of the cheek. The sample is then sent to a lab for analysis.
References
  1. Craniosynostosis information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm. Accessed March 22, 2009.
  2. Stal S, et al. Overview of craniosynostosis. http://www.uptodate.com/home/index.html. Accessed March 23, 2009.
  3. Stal S, et al. Craniosynostosis syndromes. http://www.uptodate.com/home/index.html. Accessed March 23, 2009.
  4. Craniosynostosis and craniofacial disorders. American Association of Neurological Surgeons. http://www.neurosurgerytoday.org/what/patient_e/craniosynostosis.asp. Accessed March 27, 2009.
  5. SIDS: "Back to sleep" campaign. National Institute of Child Health and Human Development. http://www.nichd.nih.gov/sids. Accessed March 27, 2009.

DS00959

May 7, 2009

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