Kölble N Wisser J Babcock D Maslen C Huch R Steinmann B 2002 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. application/pdf https://sonar.ch/global/documents/84800 eng info:eu-repo/semantics/altIdentifier/doi/10.1046/j.1469-0705.2002.00819.x info:eu-repo/semantics/altIdentifier/pmid/12383326 info:eu-repo/semantics/openAccess Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. - 2002 Adult Calcium-Binding Proteins DNA Mutational Analysis Female Fetal Diseases Fibrillin-2 Fibrillins Humans Marfan Syndrome Microfilament Proteins Pregnancy Ultrasonography, Prenatal Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. http://purl.org/coar/resource_type/c_6501