Physical Examination for Craniosynostosis, Chiari 1 Malformation, and Syringomyelia
Physical examination alone is insufficient to definitively diagnose or exclude craniosynostosis, Chiari 1 malformation, or syringomyelia—these conditions require imaging confirmation, but specific clinical findings should trigger further investigation.
Craniosynostosis Examination
Head Shape and Suture Assessment
- Assess head symmetry by viewing the skull from multiple angles (front, back, top, and sides) looking for abnormal contours or asymmetry 1.
- Palpate all cranial sutures (sagittal, coronal, lambdoid, metopic) for ridging, prominence, or absence of normal suture lines 2.
- Measure head circumference until age 5 years and compare to growth charts 1.
- Document skull morphology noting specific patterns: scaphocephaly (sagittal), trigonocephaly (metopic), plagiocephaly (unilateral coronal or lambdoid), or brachycephaly (bilateral coronal) 1.
Critical Caveat
Physical examination has only 93.2% accuracy for single-suture craniosynostosis diagnosis—6.8% of clinically diagnosed cases showed no fusion on CT imaging 2. Clinical examination is most often sufficient for diagnosis, but imaging should be reserved for equivocal cases 1.
Signs of Increased Intracranial Pressure
- Persistent headache or vomiting warrants immediate brain MRI evaluation 1.
- Fundoscopy to assess for papilledema in any patient with suspected craniosynostosis and neurological symptoms 1.
- Abnormal skull shape with clinical symptoms (not isolated abnormal shape) mandates imaging 1.
Chiari 1 Malformation Examination
Neurological Assessment
- Occipital or neck pain exacerbated by Valsalva maneuvers (coughing, sneezing, straining) is the hallmark symptom in older children 1.
- Test for peripheral motor deficits: assess strength in all extremities, looking for weakness or clumsiness 1.
- Sensory examination: check for sensory deficits in dermatomal distribution 1.
- Deep tendon reflexes: document hyporeflexia or hyperreflexia, which may indicate cord compression 1.
Cranial Nerve Function
- Lower cranial nerve dysfunction (IX, X, XI, XII): assess swallowing, gag reflex, tongue movement, and shoulder shrug 1.
- Dysarthria or dysphagia suggests brainstem compression 1.
Cerebellar Signs
- Finger-to-nose and heel-to-shin testing for ataxia or dysmetria 1.
- Gait assessment for wide-based or unsteady gait 1.
Age-Specific Presentations
- Children <3 years: abnormal oropharyngeal function is the primary manifestation 1.
- Children >3 years: scoliosis (associated with syringomyelia) or Valsalva-induced headache 1.
Respiratory Assessment
- Respiratory irregularities and central apneas may indicate brainstem compression 1.
Syringomyelia Examination
Motor Examination
- Muscular weakness: assess all muscle groups, particularly upper extremities where dissociated sensory loss is common 1.
- Range of motion: document limitations in neck or extremity movement 1.
- Muscle atrophy: look for asymmetric muscle wasting, especially in hands and forearms 1.
Sensory Examination
- Dissociated sensory loss: classic "cape-like" distribution of pain and temperature loss with preserved light touch and proprioception 1.
- Test pain and temperature sensation separately from light touch in all dermatomes 1.
Spine Assessment
- Scoliosis examination: inspect spine alignment with patient standing and bending forward (Adams forward bend test) 1.
- Spine deformity: document any kyphosis or abnormal curvature 1.
Associated Findings
- Enthesopathies and joint pain: assess for tendon insertion point tenderness 1.
- Hearing assessment: inquire about hearing loss, tinnitus, or vertigo 1.
When Physical Examination Triggers Imaging
Perform yearly basic neurological assessment but do not routinely image asymptomatic patients 1. However, complete evaluation with fundoscopy and brain/skull imaging is mandatory in patients presenting with 1:
- Skull morphology suggesting craniosynostosis
- Clinical symptoms of intracranial hypertension
- Signs of lower brainstem compression
- Signs of upper cervical cord compression
Brain and/or spinal MRI (with sagittal T2-weighted sequence of craniocervical junction) is recommended for symptomatic adults and children with persistent headache, vomiting, or abnormal skull shape to exclude craniosynostosis, Chiari 1 malformation, or syringomyelia 1.
Special Populations
X-Linked Hypophosphatemia Patients
These patients have increased risk for all three conditions and require 1:
- Yearly neurological assessment starting early in childhood
- Cranial MRI with "black bone" sequence if skull morphology suggests craniosynostosis or if clinical signs of intracranial hypertension present
- Lower threshold for imaging given 25-50% prevalence of Chiari 1 malformation in this population