Clinical Findings |
Head |
microcephaly; redundant scalp skin; biparietal depression with prominent occiput; overlapping sutures; characteristics of fetal brain disruption sequence 26,28,141–145. |
Neuromuscular |
arthrogryposis; hypertonia, hypotonia; clonus, hyperreflexia; aspiration syndromes; swallowing difficulties 28–31,142,146–148. |
Visual |
microphthalmia; macular chorioretinal atrophy; chorioretinal atrophy; pigmented retinopathy; optic disc atrophy 34,35,37,39,149–155. |
Auditory |
sensorineural hearing loss 156. |
Other |
craniofacial disproportion; failure to thrive 28. |
Imaging Findings |
Brain and spinal cord |
loss of cortical parenchyma (cortical thinning); ventriculomegaly; polymicrogyria; cerebellar hypoplasia; cerebral cortical dysplasia;lissencephaly; absence of corpus callosum; subcortical calcifications; cortical migration abnormalities, brain stem calcifications; basal ganglia calcifications; brain stem hypoplasia; reduced thickness of spinal cord 28,29,33,46,47,157–172. |