Figure 1

Clinical and MRI features of siblings with Desmosterolosis. A to C: Patient 1 craniofacial and hand features at age 14.8 years. Her dysmorphic features show scaphocephaly, tall forehead with bitemporal narrowing, short palpebral fissures, long nose, hypoplastic nasal alae, prominent columella, and low-set posteriorly rotated ears. D, E (Axial T1, Sagittal FLAIR): Patient 1 brain MRI showing white matter volume loss, dilated ventricles, thin corpus callosum, and peg-like cerebellar tonsils displaced into the upper cervical canal through the foramen magnum (Chiari I malformation). F to H: Patient 2 craniofacial and hand features at age 10.1 years, similar to Patient 1. I, J (Axial T1 and Sagittal FLAIR): Patient 2 brain MRI showing prominent and irregular ventricles, thin corpus callosum, and Chiari I malformation.