Authors of section

Authors

Scott Bartlett, Michael Ehrenfeld, Gerson Mast, Adrian Sugar

Executive Editor

Edward Ellis III

General Editor

Daniel Buchbinder

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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.

Physical examination

Physical examination should include evaluation of:

  • suture ridging
  • 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

Radiographic assessment

Although plain film radiographs (anteroposterior and lateral skull) may be useful, the gold standard radiographic method is 2D- and 3D-CT-scans.