title: Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata.
abstract: Rhizomelic chondrodysplasia punctata is a rare genetic disorder of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, cataracts, a characteristic facial appearance, failure to thrive, and psychomotor retardation. This report describes a newborn with a severe phenotype whose neuroimaging showed pachygyria-polymicrogyria, severe spinal stenosis causing compression of the cervical cord and brainstem, and tethering of the spinal cord. Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions.
authors.affiliation: Department of Child Neurology, University of California at San Francisco, San Francisco, California 94143, USA. Suzanne.goh@ucsf.edu
authors.forename: Suzanne
authors.initials: S
authors.lastname: Goh
mesh_terms: D018902:Chondrodysplasia Punctata, Rhizomelic / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development; D013116:Spinal Cord / Q000473:pathology