PMC3022162_01
Neuroimaging characteristics of a child (patient 2) in A1 and A2, and an adult (patient 5) in B1 and B2. All are T1 weighted MRI images. Note the periventricular nodular heterotopia (denoted by arrows) and the enlarged retrocerebellar space (denoted by a star)
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Fig1
A brain MRI showed bilateral PNH and an enlarged retrocerebellar space (Fig. 1).
Pedigrees of the described cases. FLNA mutation carriers in black, probably affected but deceased persons in gray. Numbers refer to the described cases
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Fig2
A 6-year-old girl presented with a cardiac murmur and was diagnosed with a mild aortic stenosis (9 mm gradient) and regurgitation with a normal left ventricle diameter that remained stable over the years (patient 4 in Table 1 and Fig. 2). A girl presented shortly after birth with cyanosis during feeding and was diagnosed with a ventricular septal defect and aortic regurgitation (patient 5 in Table 1 and Fig. 2).