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Fig. 1 | BMC Medical Genomics

Fig. 1

From: New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review

Fig. 1

Brain MRI at birth and at the age of 18 months. Brain MRI at birth (a-e): sagittal T1-weighted spin echo (SE) (a), axial T2-weighted turbo spin echo (TSE) (b-d), coronal T2-weighted TSE (e). The examination shows right microphthalmia (b) and agenesis of the right optic nerve and hemi-chiasm (a-c), normal pituitary gland and stalk (a and e), small cranial posterior fossa with vertical and caudal tentorial implant, and a wider-than-normal IV ventricle due to cerebellar vermis hypoplasia (a). No molar tooth sign is evident at the midbrain level (c). Follow-up brain MRI at the age of 18 months (e-l): sagittal T1-weighted SE (e), coronal T2-weighted TSE (f, i, l) and axial T2-weighted TSE (h). The examination confirms the eyeball, optic nerve and posterior fossa findings, and clearly displays slight vermian dysmorphism and a wide communication between the IV ventricle and the basal cisterns (f), with regular superior cerebellar peduncles (f), corpus callosum hypoplasia (f), ventricular enlargement (i and l), incomplete hippocampal inversion (l) and pituitary gland hypoplasia (f and i)

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