par Meerschaut, Ilse;De Coninck, Shana;Steyaert, Wouter;Barnicoat, Angela;Bayat, Allan;Benedicenti, Francesco;Berland, Siren;Blair, Edward M;Breckpot, Jeroen;de Burca, Anna;Destrée, Anne;García-Miñaúr, Sixto;Green, Andrew J;Hanna, Bernadette C;Keymolen, Kathelijn;Koopmans, Marije;Lederer, Damien;Lees, Melissa;Longman, Cheryl;Lynch, Sally Ann;Male, Alison M;McKenzie, Fiona;Migeotte, Isabelle ;Mihci, Ercan;Nur, Banu;Petit, Florence;Piard, Juliette;Plasschaert, Frank FS;Rauch, Anita;Ribai A Nyam, Pascale ;Pacheco, Iratxe Salcedo;Stanzial, Franco;Stolte-Dijkstra, Irene;Valenzuela, Irene;Varghese, Vinod;Vasudevan, Pradeep C;Wakeling, Emma L;Wallgren-Pettersson, Carina;Coucke, Paul;De Paepe, Anne;De Wolf, Daniël;Symoens, Sofie;Callewaert, Bert
Référence Genetics in medicine
Publication Publié, 2019-07-01
Référence Genetics in medicine
Publication Publié, 2019-07-01
Article révisé par les pairs
Résumé : | 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. |