Brain imaging by CT scan/MRI |
Cortical loss, moderate ventriculomegaly, intracranial calcifications |
Cortical loss, mild ventriculomegaly, intracranial calcifications, brainstem hypoplasia; cortical dysplasia by MRI |
Cortical loss, severe ventriculomegaly, intracranial calcifications, brainstem and cerebellar hypoplasia, Dandy–Walker malformation |
Chest X-ray (CXR)/diaphragm ultrasound (USG)/CT scan |
Paralysis of the right diaphragm by CXR and USG |
Paralysis of the right diaphragm by CXR and USG |
Paralysis of the diaphragm, bilateral; anterior more affected by CXR, USG, and CT scan |
Spinal cord MRI |
Not done |
Thin cord thoracic region, ventral predominance |
Not done |
Electromyography |
Moderate chronic involvement of peripheral motor neurons |
Moderate chronic involvement of peripheral motor neurons |
Moderate chronic involvement of peripheral motor neurons |
Nerve conduction study—phrenic nerve compound muscle action potential |
Reduced on right |
Reduced on right |
Reduced bilaterally |
Hip X-ray/ultrasound |
Bilateral hip dislocation |
Bilateral hip dislocation |
Bilateral hip dislocation |
Electroencephalogram |
Focal discharge, almost continuous, temporal bilateral |
Focal discharge, frontal bilateral |
Focal discharge, frontal bilateral |