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A clinical scoring system for congenital contractural arachnodactyly

(2020) GENETICS IN MEDICINE. 22(1). p.124-131
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Abstract
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 < 0.001) and was indicative for classifying patients into unlikely CCA (total score <7) and likely CCA (total score >= 7) groups. Conclusions Our clinical score is helpful for clinical guidance for patients suspected to have CCA, and provides a quantitative tool for phenotyping in research settings.
Keywords
congenital contractural arachnodactyly, Beals syndrome, fibrillin-2, clinical score, diagnostic criteria, MARFAN-SYNDROME, FBN2 MUTATIONS, FIBRILLIN, PATHOGENESIS, PROBANDS, DELINEATION, DILATATION, DISORDER

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MLA
Meerschaut, Ilse, et al. “A Clinical Scoring System for Congenital Contractural Arachnodactyly.” GENETICS IN MEDICINE, vol. 22, no. 1, 2020, pp. 124–31, doi:10.1038/s41436-019-0609-8.
APA
Meerschaut, I., De Coninck, S., Steyaert, W., Barnicoat, A., Bayat, A., Benedicenti, F., … Callewaert, B. (2020). A clinical scoring system for congenital contractural arachnodactyly. GENETICS IN MEDICINE, 22(1), 124–131. https://doi.org/10.1038/s41436-019-0609-8
Chicago author-date
Meerschaut, Ilse, Shana De Coninck, Wouter Steyaert, Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, et al. 2020. “A Clinical Scoring System for Congenital Contractural Arachnodactyly.” GENETICS IN MEDICINE 22 (1): 124–31. https://doi.org/10.1038/s41436-019-0609-8.
Chicago author-date (all authors)
Meerschaut, Ilse, 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, Kathelijn Keymolen, 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 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, Daniël De Wolf, Sofie Symoens, and Bert Callewaert. 2020. “A Clinical Scoring System for Congenital Contractural Arachnodactyly.” GENETICS IN MEDICINE 22 (1): 124–131. doi:10.1038/s41436-019-0609-8.
Vancouver
1.
Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, et al. A clinical scoring system for congenital contractural arachnodactyly. GENETICS IN MEDICINE. 2020;22(1):124–31.
IEEE
[1]
I. Meerschaut et al., “A clinical scoring system for congenital contractural arachnodactyly,” GENETICS IN MEDICINE, vol. 22, no. 1, pp. 124–131, 2020.
@article{8624005,
  abstract     = {{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 < 0.001) and was indicative for classifying patients into unlikely CCA (total score <7) and likely CCA (total score >= 7) groups. Conclusions Our clinical score is helpful for clinical guidance for patients suspected to have CCA, and provides a quantitative tool for phenotyping in research settings.}},
  author       = {{Meerschaut, Ilse and De Coninck, Shana and Steyaert, Wouter and Barnicoat, Angela and Bayat, Allan and Benedicenti, Francesco and Berland, Siren and Blair, Edward M. and Breckpot, Jeroen and de Burca, Anna and Destrée, Anne and García-Miñaúr, Sixto and Green, Andrew J. and Hanna, Bernadette C. and Keymolen, Kathelijn and Koopmans, Marije and Lederer, Damien and Lees, Melissa and Longman, Cheryl and Lynch, Sally Ann and Male, Alison M. and McKenzie, Fiona and Migeotte, Isabelle and Mihci, Ercan and Nur, Banu and Petit, Florence and Piard, Juliette and Plasschaert, Frank and Rauch, Anita and Ribaï, Pascale and Pacheco, Iratxe Salcedo and Stanzial, Franco and Stolte-Dijkstra, Irene and Valenzuela, Irene and Varghese, Vinod and Vasudevan, Pradeep C. and Wakeling, Emma and Wallgren-Pettersson, Carina and Coucke, Paul and De Paepe, Anne and De Wolf, Daniël and Symoens, Sofie and Callewaert, Bert}},
  issn         = {{1098-3600}},
  journal      = {{GENETICS IN MEDICINE}},
  keywords     = {{congenital contractural arachnodactyly,Beals syndrome,fibrillin-2,clinical score,diagnostic criteria,MARFAN-SYNDROME,FBN2 MUTATIONS,FIBRILLIN,PATHOGENESIS,PROBANDS,DELINEATION,DILATATION,DISORDER}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{124--131}},
  title        = {{A clinical scoring system for congenital contractural arachnodactyly}},
  url          = {{http://dx.doi.org/10.1038/s41436-019-0609-8}},
  volume       = {{22}},
  year         = {{2020}},
}

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