Approach to Suspected Craniosynostosis

Diagnosis and Imaging

Clinical examination is sufficient for diagnosis in most cases of suspected craniosynostosis, and imaging should be reserved for equivocal clinical findings or surgical planning, as recommended by the Neurosurgery society 1
Fundoscopic examination to evaluate for papilledema indicating increased intracranial pressure is crucial, according to the Nature Reviews Nephrology society 2, 3
Basic neurological examination including assessment for developmental delays is necessary, as suggested by the Nature Reviews Nephrology society 3

Reserve imaging for specific scenarios, such as equivocal clinical examination or confirmed craniosynostosis requiring surgical planning, as recommended by the Neurosurgery society 1
MRI plays no role in diagnosing craniosynostosis itself but is indicated when evaluating for associated intracranial complications like Chiari malformation, according to the Nature Reviews Nephrology and Neurosurgery societies 1, 2, 3

Avoid routine CT scanning, as suggested by the Neurosurgery society, due to radiation risks 1
Do not miss syndromic craniosynostosis, which requires referral to nationally designated craniofacial centers, as recommended by the British journal of neurosurgery society 4, 5

Annual neurological assessment for patients with known craniosynostosis is recommended, though further investigations are not recommended in asymptomatic patients, according to the Nature Reviews Nephrology society 2, 3
Refer to pediatric neurosurgery when craniosynostosis is confirmed or highly suspected clinically, or when syndromic features are present, as recommended by the British journal of neurosurgery society 4, 5
Refer to pediatric neurosurgery when signs of increased intracranial pressure are present, as suggested by the Nature Reviews Nephrology society 2, 3

Clinical examination is sufficient for diagnosis in most cases and should be prioritized over imaging, according to the American Academy of Pediatrics guidelines 6
Ultrasound is often sufficient for suspected cranial suture anomalies when clinical examination is equivocal, as recommended by the American College of Radiology 6
Advanced imaging (CT/MRI) should be reserved for equivocal clinical examinations or confirmed craniosynostosis requiring surgical planning, as suggested by the American Academy of Neurological Surgeons 6
Routine X-rays are NOT indicated for fontanelle abnormalities, according to the American Academy of Pediatrics guidelines 6

Positional brachycephaly (bilateral occipital flattening) is typically benign and responds to repositioning, as reported by the Congress of Neurological Surgeons 7
Imaging should only be pursued when clinical examination cannot definitively exclude craniosynostosis, as recommended by the American Association of Neurological Surgeons 8

Clinical examination alone is sufficient to differentiate craniosynostosis from positional plagiocephaly in the vast majority of cases, and imaging should be reserved only for equivocal clinical findings, as recommended by the American Association of Neurological Surgeons 9, 10
Positional plagiocephaly improves with repositioning efforts, according to the American Academy of Pediatrics 11

When clinical examination is equivocal and cannot definitively exclude craniosynostosis, imaging is appropriate, and the first-line imaging modality should be skull x-rays or ultrasound of the suspect suture, as suggested by the American College of Radiology 10, 12
CT scan should only be used as a second-line diagnostic tool if x-rays or ultrasound are non-diagnostic, due to radiation risks and cancer risk in developing children, as recommended by the American Academy of Pediatrics 10, 12

The specialist will determine appropriate treatment (repositioning, physical therapy, helmet therapy, or surgery) for craniosynostosis or positional plagiocephaly, according to the American Society of Plastic Surgeons 11

Craniosynostosis is a recognized neurosurgical complication of X-Linked Hypophosphatemia (XLH), along with Chiari malformations and syringomyelia, and should be considered when craniosynostosis occurs with rickets, bone pain, growth failure, or leg bowing 13