The diagnosis of craniosynostosis is made by physical examination and radiographic analysis.
History of risk factors during pregnancy
A positive family history may be found in up to:
Elevated ICP occurs in approximately 47% of patients with multiple, and in 14% of patients with single suture fusion. ICP can be recognized clinically by the finding of papilledema on fundoscopic examination and, in later stages, "thumb printing" or the "beaten copper" appearance on plain radiographs of the skull. Headaches, irritability, developmental delays, and sophisticated eye evaluation (visual evoked potentials, colour analysis) may suggest increased ICP.
Patients with significant midface retrusion should be evaluated for the presence of sleep apnea and airway compromise. Syndromic patients may also have intrinsic airway anomalies such as tracheal sleeve and laryngomalacia.
Physical examination should include evaluation of:
Although plain film radiographs (anteroposterior and lateral skull) may be useful, the gold standard radiographic method is 2D- and 3D-CT-scans.