title: Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome?
abstract: Beals syndrome, also known as congenital contractural arachnodactyly (Online Mendelian Inheritance in Man: 121050), is an autosomal dominant disorder caused by a mutation inFBN2that is typically characterized by congenital contractures and arachnodactyly. It shares a number of phenotypic features with Loeys-Dietz syndrome (Online Mendelian Inheritance in Man: 609192). Loeys-Dietz syndrome, initially described in 2005, is associated with mutations for the transforming growth factor β receptor and is characterized by findings of cerebral, thoracic, and abdominal arterial aneurysms. This report describes a 17-year-old male patient with a typical neonatal diagnosis of Beals syndrome. At age 15 years, an echocardiogram conducted in response to an aortic dissection in his father showed moderate aortic root dilation, prompting comprehensive testing for aortopathies, revealing a mutation inTGFBR1, thereby changing the diagnosis to Loeys-Dietz syndrome. Previously published reports have not implicated any mutation of the transforming growth factor β receptor genes in cases of Beals syndrome. This case underscores that due to significant phenotypic overlap, there is utility in a full panel of testing, including genes for hereditary connective tissue disorders with vascular involvement, as well asFBN2.Likewise, young patients who have tested negative forFBN2should be tested for hereditary connective tissue disorders with vascular involvement.
authors.affiliation: Department of Pediatrics, and.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Woolnough
authors.affiliation: School of Medicine, Queen's University, Kingston, Ontario, Canada.
authors.forename: Andrew
authors.initials: A
authors.lastname: Dhawan
authors.affiliation: Department of Pediatrics, and.
authors.forename: Kimberly
authors.initials: K
authors.lastname: Dow
authors.affiliation: Department of Pediatrics, and waliaj@kgh.kari.net.
authors.forename: Jagdeep S
authors.initials: JS
authors.lastname: Walia
mesh_terms: D000293:Adolescent; D001018:Aortic Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D054119:Arachnodactyly / Q000175:diagnosis; D003286:Contracture / Q000175:diagnosis; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D004108:Dilatation, Pathologic / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D000077293:Receptor, Transforming Growth Factor-beta Type I; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; C000625841:TGFBR1 protein, human