Fig. 1From: Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrumBrain MRI T2-weighted, sagittal (1) and coronal (2) sections. a Patient 1, microcephaly, mild enlargement of the subarachnoid space and atrophy of the white matter, but no pontocerebellar hypoplasia at age 40 months. b Patient 2, normal MRI at age 10 daysBack to article page