A clinical scoring system for congenital ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
A clinical scoring system for congenital contractural arachnodactyly
Auteur(s) :
Meerschaut, Ilse [Auteur]
De Coninck, Shana [Auteur]
Steyaert, Wouter [Auteur]
Barnicoat, Angela [Auteur]
Bayat, Allan [Auteur]
Benedicenti, Francesco [Auteur]
Berland, Siren [Auteur]
Blair, Edward M. [Auteur]
Breckpot, Jeroen [Auteur]
De Burca, Anna [Auteur]
Destree, Anne [Auteur]
Garcia-Minaur, Sixto [Auteur]
Green, Andrew J. [Auteur]
Hanna, Bernadette C. [Auteur]
Keymolen, Kathelijn [Auteur]
Koopmans, Marije [Auteur]
Lederer, Damien [Auteur]
Lees, Melissa [Auteur]
Longman, Cheryl [Auteur]
Lynch, Sally Ann [Auteur]
Male, Alison M. [Auteur]
Mckenzie, Fiona [Auteur]
Migeotte, Isabelle [Auteur]
Mihci, Ercan [Auteur]
Nur, Banu [Auteur]
Petit, Florence [Auteur]
Piard, Juliette [Auteur]
Plasschaert, Frank S. [Auteur]
Rauch, Anita [Auteur]
Ribai, Pascale [Auteur]
Pacheco, Iratxe Salcedo [Auteur]
Stanzial, Franco [Auteur]
Stolte-Dijkstra, Irene [Auteur]
Valenzuela, Irene [Auteur]
Varghese, Vinod [Auteur]
Vasudevan, Pradeep C. [Auteur]
Wakeling, Emma [Auteur]
Wallgren-Pettersson, Carina [Auteur]
Coucke, Paul J. [Auteur]
De Paepe, Anne [Auteur]
De Wolf, Daniel [Auteur]
Territoires, Villes, Environnement & Société (TVES) - ULR 4477
Symoens, Sofie [Auteur]
Callewaert, Bert [Auteur]
De Coninck, Shana [Auteur]
Steyaert, Wouter [Auteur]
Barnicoat, Angela [Auteur]
Bayat, Allan [Auteur]
Benedicenti, Francesco [Auteur]
Berland, Siren [Auteur]
Blair, Edward M. [Auteur]
Breckpot, Jeroen [Auteur]
De Burca, Anna [Auteur]
Destree, Anne [Auteur]
Garcia-Minaur, Sixto [Auteur]
Green, Andrew J. [Auteur]
Hanna, Bernadette C. [Auteur]
Keymolen, Kathelijn [Auteur]
Koopmans, Marije [Auteur]
Lederer, Damien [Auteur]
Lees, Melissa [Auteur]
Longman, Cheryl [Auteur]
Lynch, Sally Ann [Auteur]
Male, Alison M. [Auteur]
Mckenzie, Fiona [Auteur]
Migeotte, Isabelle [Auteur]
Mihci, Ercan [Auteur]
Nur, Banu [Auteur]
Petit, Florence [Auteur]
Piard, Juliette [Auteur]
Plasschaert, Frank S. [Auteur]
Rauch, Anita [Auteur]
Ribai, Pascale [Auteur]
Pacheco, Iratxe Salcedo [Auteur]
Stanzial, Franco [Auteur]
Stolte-Dijkstra, Irene [Auteur]
Valenzuela, Irene [Auteur]
Varghese, Vinod [Auteur]
Vasudevan, Pradeep C. [Auteur]
Wakeling, Emma [Auteur]
Wallgren-Pettersson, Carina [Auteur]
Coucke, Paul J. [Auteur]
De Paepe, Anne [Auteur]
De Wolf, Daniel [Auteur]
Territoires, Villes, Environnement & Société (TVES) - ULR 4477
Symoens, Sofie [Auteur]
Callewaert, Bert [Auteur]
Titre de la revue :
Genetics in medicine . official journal of the American College of Medical Genetics
Nom court de la revue :
Genet. Med.
Date de publication :
2019-07-18
ISSN :
1530-0366
Mot(s)-clé(s) :
clinical score
Beals syndrome
congenital contractural arachnodactyly
diagnostic criteria
fibrillin-2
Beals syndrome
congenital contractural arachnodactyly
diagnostic criteria
fibrillin-2
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
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 ...
Lire la suite >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. 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. The total score was significantly different between the groups (P < 0.001) and was indicative for classifying patients into unlikely CCA (total score <7) and likely CCA (total score ≥7) groups. Our clinical score is helpful for clinical guidance for patients suspected to have CCA, and provides a quantitative tool for phenotyping in research settings.Lire moins >
Lire la suite >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. 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. The total score was significantly different between the groups (P < 0.001) and was indicative for classifying patients into unlikely CCA (total score <7) and likely CCA (total score ≥7) groups. Our clinical score is helpful for clinical guidance for patients suspected to have CCA, and provides a quantitative tool for phenotyping in research settings.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
Université de Lille
Collections :
Date de dépôt :
2021-09-02T07:02:19Z