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Tests and diagnosis
By Mayo Clinic staffDiagnosis of craniosynostosis may include:
- A physical exam. Your doctor will feel your baby's head for abnormalities such as suture ridges, and look for facial deformities.
- 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 is suspected, your doctor may take a sample of your baby's a hair, skin or other tissue, such as cells from the inside of the cheek. The sample is sent to a lab for analysis.
References
- Craniosynostosis information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm. Accessed Aug. 9, 2011.
- Stal S, et al. Overview of craniosynostosis. http://www.uptodate.com/home/index.html. Accessed Aug. 9, 2011.
- Craniosynostosis and craniofacial disorders. American Association of Neurological Surgeons. http://www.aans.org/en/Patient%20Information/Conditions%20and%20Treatments/Craniosynostosis%20and%20Craniofacial%20Disorders.aspx. Accessed Aug. 9, 2011.
- Back to Sleep public education campaign. National Institute of Child Health & Human Development. http://www.nichd.nih.gov/sids. Accessed Aug 9, 2011.
- Stal S, et al. Craniosynostosis syndromes. http://www.uptodate.com/home/index.html. Accessed Aug. 9, 2011.
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