Fig. 1: Patients with DHX30 variants and their MRI findings.
From: A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
a Patient 2 at 3 years of age. The patient exhibited thick low-set ears, long eyelashes, interdental space, high arched palate, micrognathia, b tapered fingers and hand licking. c Patient 3 at 5 years of age. The patient exhibited internal strabismus, epicanthus, thick eye brow, long eyelashes, and d tapered fingers. e Axial T1-weighted brain MRI of Patient 2 demonstrated a decreased white matter volume and enlarged brain ventricles and extra-axial space. f Axial T2-weighted fluid-attenuated inversion recovery brain MRI of Patient 3 demonstrated significant decreases in the volume of the midbrain and ventricular dilatation and completed myelination with remaining multiple areas of patchy increased T2 signal around the cerebral white matter. DHX30 variants were identified in patients 1 (g) and 2 (h) by the Sanger method. Arrows indicate variations.
