Tests and diagnosis

By Mayo Clinic Staff

Diagnosis 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. 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.

    X-rays also may be used to measure precise dimensions of your baby's skull, using a technique called cephalometry.

  • 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 hair, skin or other tissue, such as cells from the inside of the cheek. The sample is sent to a lab for analysis.

Sept. 09, 2016