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(a) Pedigree of the family – normal allele. (b–e) Patient 1. Facial features at 7 years and 8 months of age (b and c) showing frontal bossing and mild midface hypoplasia. Brain MRI (T2-weighed images; (d): sagittal; (e): axial), performed at 18 months of age, showed no specific abnormalities: note mild brain atrophy and thin corpus callosum. (f and g) Patient 2 (at 3 years and 9 months of age) showing mild frontal bossing and no specific dysmorphic facial features.
