Patient examination

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
Uterine abnormalities
Head constraint
Maternal smoking
Caucasian maternal race
Advanced maternal age
High altitude
Maternal use of nitrofurantoin
Paternal occupation (agriculture, forestry)
Fertility treatments
Endocrine abnormalities
Warfarin ingestion

Family history

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

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.

Respiratory problems

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.