title: Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis.
abstract: We report the prenatal findings in two cases of Beals syndrome. Both pregnancies presented with clinical features of arthrogryposis multiplex congenita/fetal akinesia syndrome (AMC/FAS), including clenched fists and multiple joint contractures on repeat prenatal ultrasound examinations. The first case was diagnosed as having Beals syndrome on physical examination shortly after birth and the diagnosis was confirmed by DNA analysis, shown as a point mutation in the fibrillin 2 (FBN2) gene. The second case was diagnosed with Beals syndrome following microarray analysis on amniocytes, which showed a deletion of the FBN2 gene. Although most cases with AMC/FAS carry a poor prognosis, Beals syndrome is consistent with normal cognitive development and a better prognosis. Thus, making the correct diagnosis is crucial, both pre- and postnatally, for accurate counseling and management.
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Inbar-Feigenberg
authors.forename: N
authors.initials: N
authors.lastname: Meirowitz
authors.forename: D
authors.initials: D
authors.lastname: Nanda
authors.forename: A
authors.initials: A
authors.lastname: Toi
authors.forename: N
authors.initials: N
authors.lastname: Okun
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
mesh_terms: D000328:Adult; D054119:Arachnodactyly / Q000000981:diagnostic imaging* / Q000235:genetics*; D001176:Arthrogryposis / Q000000981:diagnostic imaging; D003286:Contracture / Q000000981:diagnostic imaging* / Q000235:genetics*; D003937:Diagnosis, Differential; D004314:Down Syndrome / Q000000981:diagnostic imaging; D005260:Female; D000071840:Fibrillin-2; D000071837:Fibrillins; D005865:Gestational Age; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000378:metabolism; D017354:Point Mutation; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000379:methods
chemical_list: C000605723:FBN2 protein, human; D000071840:Fibrillin-2; D000071837:Fibrillins; D008840:Microfilament Proteins
keywords: Beals syndrome; Marfan syndrome; arachnodactyly; congenital contractures; crumpled ears; fetal akinesia; fibrillin 2 gene