Fig. 1
From: Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome
Clinical findings in index patient. (A) OCT of both eyes. (B) Brain MRI. The upper section shows coronal T2 weighted MRI with complete absence of the septum pellucidum (*) and mid-line fusion of both fornices (arrow). Abnormal sulcation of both hippocampi is also noted. The lower section shows sagittal T1 weighted of the mid-line brain: abnormal thickenned fornix (arrow) and ectopic neurohypophisis (arrowhead). Hypoplastic sella turcica. (C) Audiograms of both ears confirm a moderate bilateral SNHL in medium and high frequencies. The speech audiometry shows a 50% of understanding achieved at 50 decibels and 100% at 80 decibels bilaterally