title: A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
abstract: This report describes a Japanese family with vessel and craniofacial abnormalities. Although the clinical findings of the patient's father fulfilled the diagnostic criteria for Marfan syndrome, arterial tortuosity, aneurysms, hypertelorism and a bifid uvula were noted in both the patient and his father. These findings were compatible with the clinical manifestations that were previously reported in Loeys-Dietz syndrome. A molecular genetic analysis demonstrated a heterozygous missense mutation of the transforming growth factor-beta receptor II gene in both the patient and his father, which thus caused Loeys-Dietz syndrome. This is the first Japanese family case report of typical Loeys-Dietz syndrome.
authors: Department of Internal Medicine, Sumitomo Hospital, Osaka. togashi-yousuke@sumitomo-hp.or.jp
authors: Yosuke
authors: Y
authors: Togashi
authors: Hiroto
authors: H
authors: Sakoda
authors: Akira
authors: A
authors: Nishimura
authors: Naomichi
authors: N
authors: Matsumoto
authors: Hisatoyo
authors: H
authors: Hiraoka
authors: Yuji
authors: Y
authors: Matsuzawa
mesh_terms: D000328:Adult; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008382:Marfan Syndrome / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D013577:Syndrome; D014609:Uvula / Q000002:abnormalities; D054079:Vascular Malformations / Q000175:diagnosis / Q000235:genetics*
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II