• Ilse Meerschaut
  • Shana De Coninck
  • Wouter Steyaert
  • Angela Barnicoat
  • Allan Bayat
  • Francesco Benedicenti
  • Siren Berland
  • Edward M. Blair
  • Jeroen Breckpot
  • Anna de Burca
  • Anne Destrée
  • Sixto García-Miñaúr
  • Andrew J. Green
  • Bernadette C. Hanna
  • Marije Koopmans
  • Damien Lederer
  • Melissa Lees
  • Cheryl Longman
  • Sally Ann Lynch
  • Alison M. Male
  • Fiona McKenzie
  • Isabelle Migeotte
  • Ercan Mihci
  • Banu Nur
  • Florence Petit
  • Juliette Piard
  • Frank S. Plasschaert
  • Anita Rauch
  • Pascale Ribaï
  • Iratxe Salcedo Pacheco
  • Franco Stanzial
  • Irene Stolte-Dijkstra
  • Irene Valenzuela
  • Vinod Varghese
  • Pradeep C. Vasudevan
  • Emma Wakeling
  • Carina Wallgren-Pettersson
  • Paul Coucke
  • Anne De Paepe
  • Sofie Symoens
  • Bert Callewaert
PURPOSE Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presentation, and overlap with other conditions including Marfan syndrome, the diagnosis is challenging, but important for prognosis and clinical management. CCA is caused by pathogenic variants in FBN2, encoding fibrillin-2, but locus heterogeneity has been suggested. We designed a clinical scoring system and diagnostic criteria to support the diagnostic process and guide molecular genetic testing. METHODS In this retrospective study, we assessed 167 probands referred for FBN2 analysis and classified them into a FBN2-positive (n = 44) and FBN2-negative group (n = 123) following molecular analysis. We developed a 20-point weighted clinical scoring system based on the prevalence of ten main clinical characteristics of CCA in both groups. RESULTS The total score was significantly different between the groups (P 
Original languageEnglish
JournalGenetics in Medicine
DOIs
Publication statusPublished - 18 Jul 2019

    Research areas

  • Beals syndrome, clinical score, congenital contractural arachnodactyly, diagnostic criteria, fibrillin-2

ID: 47535657