The diagnosis of craniosynostosis is made by physical examination and radiographic analysis.
History of risk factors during pregnancy
Multiple gestation (eg. twins, triplets)
Large infant size
Abnormal infant position
Caucasian maternal race
Advanced maternal age
Maternal use of nitrofurantoin
Paternal occupation (agriculture, forestry)
A positive family history may be found in up to:
2 % of patients with nonsyndromic sagittal suture closure
10 % of patients with nonsyndromic coronal suture closure
10 % of patients with nonsyndromic metopic suture closure
50 % of patients with a syndromic craniosynostosis
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:
sutural patency by manual palpation
skull and facial configuration
fullness and patency of both the anterior and posterior fontanels
the presence of exophthalmos or orbital dystopia
eyelid ptosis and strabismus
occlusal relationships and dental development
the presence of diplopia and papilledema
the intracranial pressure
Although plain film radiographs (anteroposterior and lateral skull) may be useful, the gold standard radiographic method is 2D- and 3D-CT-scans.