title: Aortic root dilation in apparent Lujan-Fryns syndrome.
abstract: We present a patient and his maternal uncle who have a subaortic ventricular septal defect and aortic root dilation. They both have physical anomalies, characteristic behaviors, and cognitive disabilities that are consistent with the diagnosis of Lujan-Fryns syndrome (LFS). Although there have been 4 cases reported in the literature with heart findings, ventricular septal defect and aortic root dilation have not been previously reported in LFS. Differentiation between LFS and Marfan syndrome (MS) is discussed. The pathophysiology of LFS as a connective tissue disorder is also considered.
authors.affiliation: Gundersen Medical Foundation, La Crosse, Wisconsin 54601, USA.
authors.forename: L M
authors.initials: LM
authors.lastname: Wittine
authors.forename: K D
authors.initials: KD
authors.lastname: Josephson
authors.forename: M S
authors.initials: MS
authors.lastname: Williams
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001021:Aortic Valve / Q000002:abnormalities*; D003937:Diagnosis, Differential; D004108:Dilatation, Pathologic / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis; D010375:Pedigree; D013577:Syndrome