What is the approach to suspected craniosynostosis?

Approach to Suspected Craniosynostosis

Clinical examination is sufficient for diagnosis in most cases of suspected craniosynostosis, and imaging should be reserved for equivocal clinical findings or surgical planning. 1, 2, 3

Initial Clinical Assessment

Perform a thorough physical examination focusing on:

• Head shape asymmetry and specific deformity patterns (e.g., scaphocephaly for sagittal synostosis, trigonocephaly for metopic synostosis, plagiocephaly for unilateral coronal or lambdoid synostosis) 2, 3
• Palpation of cranial sutures for ridging or prominence - a palpable ridge strongly suggests synostosis 4, 5
• Serial head circumference measurements to assess growth trajectory 3
• Fundoscopic examination to evaluate for papilledema indicating increased intracranial pressure 1
• Basic neurological examination including assessment for developmental delays 1, 6

Distinguish between craniosynostosis and positional plagiocephaly clinically: positional brachycephaly (bilateral occipital flattening) is typically benign and responds to repositioning, whereas true synostosis presents with compensatory skull growth perpendicular to the fused suture 2

Imaging Strategy

When clinical examination is definitive, proceed directly to management without imaging. 1, 2, 3

Reserve imaging for specific scenarios:

• Equivocal clinical examination where you cannot definitively exclude craniosynostosis 1, 2, 3
• Confirmed craniosynostosis requiring surgical planning 2, 3
• Skull morphology suggestive of craniosynostosis with symptoms of intracranial hypertension, brainstem compression, or Chiari 1 malformation 1

Imaging modality selection (in order of preference):

• Ultrasound is often sufficient for suspected cranial suture anomalies in young infants and should be the first-line imaging when clinical examination is equivocal 2, 3, 5
• Plain skull radiographs can be used but are NOT indicated routinely for fontanelle abnormalities 2, 3
• CT scanning is the gold standard but should be used sparingly due to radiation exposure; reserve for surgical planning in confirmed cases or when ultrasound is inconclusive 1, 5
• MRI plays no role in diagnosing craniosynostosis itself but is indicated when evaluating for associated intracranial complications like Chiari malformation 1

Critical Pitfalls

Avoid routine CT scanning: A 2023 study found that 6.8% of patients with clinical diagnosis of single-suture craniosynostosis had no evidence of fusion on CT, suggesting physical examination alone may miss cases, but this does not justify routine CT in all suspected cases given radiation risks 4. The guideline consensus remains that clinical examination should drive the decision for imaging, not the reverse 1, 2, 3.

Do not miss syndromic craniosynostosis: Multisuture involvement, facial dysmorphism, or limb abnormalities suggest syndromic forms (Apert, Crouzon, Pfeiffer, Muenke syndromes) that require referral to nationally designated craniofacial centers 1, 6

Screen for complications in confirmed cases:

• Annual neurological assessment for patients with known craniosynostosis, though further investigations are not recommended in asymptomatic patients 1
• Complete evaluation with fundoscopy and brain/skull imaging for any patient presenting with symptoms of intracranial hypertension, lower brainstem compression, or upper cervical cord compression 1
• Follow-up clinical and radiological evaluation for patients with documented craniosynostosis or Chiari 1 malformation 1

Referral and Management

Refer to pediatric neurosurgery when:

• Craniosynostosis is confirmed or highly suspected clinically 1
• Syndromic features are present - these require specialized craniofacial centers 1
• Signs of increased intracranial pressure are present 1, 6

Timing matters: Early diagnosis and surgical intervention optimize outcomes and minimize neurologic impairment, developmental delay, and visual complications 7, 6