title: Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly.
abstract: Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed.
authors.affiliation: Unit of Perinatal Physiology, Department of Obstetrics, University Hospital, Zurich, Switzerland. nicole.koelble@fhk.usz.ch
authors.forename: N
authors.initials: N
authors.lastname: Kölble
authors.forename: J
authors.initials: J
authors.lastname: Wisser
authors.forename: D
authors.initials: D
authors.lastname: Babcock
authors.forename: C
authors.initials: C
authors.lastname: Maslen
authors.forename: R
authors.initials: R
authors.lastname: Huch
authors.forename: B
authors.initials: B
authors.lastname: Steinmann
mesh_terms: D000328:Adult; D002135:Calcium-Binding Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D000071840:Fibrillin-2; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
chemical_list: D002135:Calcium-Binding Proteins; C000605723:FBN2 protein, human; D000071840:Fibrillin-2; D000071837:Fibrillins; D008840:Microfilament Proteins