What imaging studies to order if suspecting craniosynostosis?

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Last updated: April 1, 2025View editorial policy

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From the Guidelines

If you suspect craniosynostosis, order a CT scan as the primary diagnostic test, as it may be of assistance in diagnosis, according to the national guidelines for dental diagnostic imaging in the developmental age 1. When suspecting craniosynostosis, the primary goal is to confirm the diagnosis and assess the extent of the condition to guide treatment.

Diagnostic Approach

  • A CT scan is recommended for treatment planning, as it provides detailed visualization of the cranial sutures and skull shape abnormalities, allowing for definitive diagnosis 1.
  • For suspected anomalies of the cranial sutures and the anterior fontanelle, an ultrasound examination may be sufficient, but CT is preferred for its higher sensitivity and specificity 1.
  • Plain skull radiographs may be considered as an initial screening tool in some cases, though they are less sensitive than CT.

Additional Evaluations

  • For infants with suspected increased intracranial pressure, include ophthalmologic examination to assess for papilledema.
  • Genetic testing may be appropriate if syndromic craniosynostosis is suspected, particularly when there are additional congenital anomalies or a family history of craniosynostosis.
  • MRI is not routinely needed for diagnosis but may be ordered if brain abnormalities are suspected, as recommended in other guidelines, such as those for X-linked hypophosphataemia 1.

Importance of Early Diagnosis

Early diagnosis is critical as treatment is most effective when initiated before 12 months of age, when the skull is still growing rapidly and surgical correction can achieve optimal outcomes with fewer complications. The evidence from the national guidelines for dental diagnostic imaging in the developmental age 1 supports the use of CT scans as the primary diagnostic test for suspected craniosynostosis, and this approach prioritizes the best possible outcomes in terms of morbidity, mortality, and quality of life.

From the Research

Diagnostic Imaging for Craniosynostosis

  • Cranial ultrasound scan (CUS) is a reliable first-step imaging evaluation for the diagnosis of craniosynostosis in infants, especially those under 6 months of life 2.
  • CUS is a highly specific and sensitive imaging technique, but it is operator-dependent and has a learning curve 2.
  • Computed Tomography (CT) scan is also used for diagnosis, especially for complex cases or when CUS results are inconclusive 2, 3.
  • 3-D CT plays an important role in accurate diagnosis and management of craniosynostosis, but it is essential to limit the radiation burden in children 3.

Characteristics and Treatment of Craniosynostosis

  • Craniosynostosis is characterized by the premature fusion of one or more cranial sutures, leading to abnormal skull shape and restricted skull growth 4, 5.
  • Early referral to a pediatric craniofacial center is crucial for exploring all treatment options, including open calvarial reconstruction, minimally invasive strip craniectomy, and cranial distraction 4, 5.
  • The choice of surgical procedure depends on factors such as patient age, synostosis pattern, and evidence of elevated intracranial pressure 5.
  • Untreated craniosynostosis can cause serious complications, including developmental delay, facial abnormality, and neurological dysfunction, emphasizing the importance of early diagnosis and treatment 6.

References

Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

Research

Cranial ultrasound is a reliable first step imaging in children with suspected craniosynostosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2017

Research

Craniosynostosis.

Pediatric neurology, 2015

Research

Craniosynostosis: Current Evaluation and Management.

Annals of plastic surgery, 2024

Research

Craniosynostosis - Recognition, clinical characteristics, and treatment.

Bosnian journal of basic medical sciences, 2018

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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