title: Imaging and clinical features in a child with Loeys-Dietz syndrome. A case report.
abstract: We describe a boy with Loeys-Dietz syndrome (LDS) a genetic and recently described condition that affects connective tissues belonging to a group of Marfan-related disorders. Since there are only a few cases reported misdiagnosis may not be uncommon. Radiological findings in our patient include pectus excavatum, aortic root dilatation, diffuse dilatation of the intracerebral vessels and a Chiari I malformation. We describe the imaging findings, clinical presentation and diagnosis criteria of this entity.
authors.affiliation: Department of Neuroradiology, University of North Carolina, Chapel Hill, North Carolina 27599-7510, USA. Barbara.Alejandra.Suarez.Arfenoni2@sergas.es
authors.forename: B
authors.initials: B
authors.lastname: Suarez
authors.forename: A
authors.initials: A
authors.lastname: Caldera
authors.forename: M
authors.initials: M
authors.lastname: Castillo
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology*; D002536:Cerebral Arteries / Q000473:pathology; D005660:Funnel Chest / Q000473:pathology*; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000473:pathology*; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male