A clinical scoring system for congenital contractural arachnodactyly.

• Meerschaut I Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
• De Coninck S Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
• Steyaert W Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
• Barnicoat A Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
• Bayat A Department of Pediatrics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark.
• Benedicenti F Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
• Berland S Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
• Blair EM Oxford Centre for Genomic Medicine, Oxford, UK.
• Breckpot J Center for Human Genetics, University Hospitals Leuven, Catholic University Leuven, Leuven, Belgium.
• de Burca A Oxford Centre for Genomic Medicine, Oxford, UK.
• Destrée A Center for Human Genetics, Institute of Pathology and Genetics (IPG), Gosselies, Belgium.
• García-Miñaúr S Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
• Green AJ Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
• Hanna BC Clinical Genetics Department, Westmead Hospital, Sydney, Australia.
• Keymolen K Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.
• Koopmans M Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
• Lederer D Center for Human Genetics, Institute of Pathology and Genetics (IPG), Gosselies, Belgium.
• Lees M Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
• Longman C West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, Scotland.
• Lynch SA Department of Clinical Genetics, Temple Street Children's Hospital, Dublin, Ireland.
• Male AM Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
• McKenzie F Genetic Services of Western Australia, Perth, WA, Australia.
• Migeotte I Centre de Génétique Humaine, Université Libre de Bruxelles, Brussels, Belgium.
• Mihci E Department of Pediatric Genetics, Akdeniz University Medical School, Akdeniz, Turkey.
• Nur B Department of Pediatric Genetics, Akdeniz University Medical School, Akdeniz, Turkey.
• Petit F Clinique de Génétique, CHU Lille, Lille, France.
• Piard J Centre de Génétique Humaine, Université de Franche-Comté, CHU Besançon, Besançon, France.
• Plasschaert FS Department of Pediatric Orthopedics and Traumatology, Ghent University Hospital, Ghent, Belgium.
• Rauch A Institut für Medizinische Genetik, Universität Zürich, Zürich, Switzerland.
• Ribaï P Center for Human Genetics, Institute of Pathology and Genetics (IPG), Gosselies, Belgium.
• Pacheco IS Pediatria, Alava iniversity hospital, Alava, Spain.
• Stanzial F Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
• Stolte-Dijkstra I Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
• Valenzuela I Department of Clinical and Molecular genetics and Rare disease Unit, University Hospital Vall d'Hebron, Barcelona, Spain.
• Varghese V Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
• Vasudevan PC Medical Genetics, University of Leicester, University Hospitals of Leicester NHS Trust, Leicester, UK.
• Wakeling E North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Harrow, UK.
• Wallgren-Pettersson C The Folkhaelsan Institute of Genetics and the Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
• Coucke P Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
• De Paepe A Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
• De Wolf D Department of Pediatric Cardiology, Ghent University Hospital, Ghent, Belgium.
• Symoens S Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
• Callewaert B Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. Bert.Callewaert@UGent.be.

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Beals syndrome

clinical score

congenital contractural arachnodactyly

diagnostic criteria

fibrillin-2

Arachnodactyly

Child

Contracture

Diagnosis, Differential

Early Diagnosis

Female

Fibrillin-2

Genetic Testing

Humans

Male

Marfan Syndrome

Phenotype

Retrospective Studies

Sensitivity and Specificity

Sequence Analysis, DNA