BACKGROUND: Agreement on terminology and nomenclature is fundamental and essential for effective exchange of information between clinicians and researchers. An adequate terminology to describe all patients showing vascular malformations combined with deregulated growth is at present not available. OBJECTIVES: To propose a classification of patients with vascular malformations, not restricted to the face, and growth disturbances based on simple, clinically visible characteristics, on which clinicians and researchers can comment and which should eventually lead to an internationally accepted classification. METHODS: Rooted in our joint experience we established a classification of vascular malformation not limited to the face, with growth disturbances. It is based on the nature and localization of the vascular malformations; the nature, localization and timing of growth disturbances; the nature of co-localization of the vascular malformations and growth disturbances; the presence or absence of other features. Subsequently a mixed (experienced and non-experienced) group of observers evaluated 146 patients (106 from the Netherlands; 40 from the UK) with vascular malformations and disturbed growth, using the classification. Inter-observer variability was assessed by estimating the Intra-Class Correlation (ICC) coefficient and its 95% confidence interval. RESULTS: We defined 6 subgroups within the group of entities with vascular malformation-deregulated growth. Scoring the patients using the proposed classification yielded a high inter-observer reproducibility (ICC varying between 0.747 and 0.895 for all levels of flow). CONCLUSIONS: The presently proposed classification was found to be reliable and easy to use for patients with vascular malformations with growth disturbances. We invite both clinicians and researchers to comment on the classification, in order to improve it further. This way we may obtain our final aim of an internationally accepted classification of patients, which should facilitate both clinical treatment and care of, as well as research into the molecular background of entities combining vascular malformation and deregulated growth.
BACKGROUND: Agreement on terminology and nomenclature is fundamental and essential for effective exchange of information between clinicians and researchers. An adequate terminology to describe all patients showing vascular malformations combined with deregulated growth is at present not available. OBJECTIVES: To propose a classification of patients with vascular malformations, not restricted to the face, and growth disturbances based on simple, clinically visible characteristics, on which clinicians and researchers can comment and which should eventually lead to an internationally accepted classification. METHODS: Rooted in our joint experience we established a classification of vascular malformation not limited to the face, with growth disturbances. It is based on the nature and localization of the vascular malformations; the nature, localization and timing of growth disturbances; the nature of co-localization of the vascular malformations and growth disturbances; the presence or absence of other features. Subsequently a mixed (experienced and non-experienced) group of observers evaluated 146 patients (106 from the Netherlands; 40 from the UK) with vascular malformations and disturbed growth, using the classification. Inter-observer variability was assessed by estimating the Intra-Class Correlation (ICC) coefficient and its 95% confidence interval. RESULTS: We defined 6 subgroups within the group of entities with vascular malformation-deregulated growth. Scoring the patients using the proposed classification yielded a high inter-observer reproducibility (ICC varying between 0.747 and 0.895 for all levels of flow). CONCLUSIONS: The presently proposed classification was found to be reliable and easy to use for patients with vascular malformations with growth disturbances. We invite both clinicians and researchers to comment on the classification, in order to improve it further. This way we may obtain our final aim of an internationally accepted classification of patients, which should facilitate both clinical treatment and care of, as well as research into the molecular background of entities combining vascular malformation and deregulated growth.
Authors: Ghayda M Mirzaa; Alex R Paciorkowski; Christopher D Smyser; Marcia C Willing; Anne C Lind; William B Dobyns Journal: Am J Med Genet A Date: 2011-08-03 Impact factor: 2.802
Authors: Marjorie J Lindhurst; Victoria E R Parker; Felicity Payne; Julie C Sapp; Simon Rudge; Julie Harris; Alison M Witkowski; Qifeng Zhang; Matthijs P Groeneveld; Carol E Scott; Allan Daly; Susan M Huson; Laura L Tosi; Michael L Cunningham; Thomas N Darling; Joseph Geer; Zoran Gucev; V Reid Sutton; Christos Tziotzios; Adrian K Dixon; Timothy Helliwell; Stephen O'Rahilly; David B Savage; Michael J O Wakelam; Inês Barroso; Leslie G Biesecker; Robert K Semple Journal: Nat Genet Date: 2012-06-24 Impact factor: 38.330
Authors: Jean-Baptiste Rivière; Ghayda M Mirzaa; Brian J O'Roak; Margaret Beddaoui; Diana Alcantara; Robert L Conway; Judith St-Onge; Jeremy A Schwartzentruber; Karen W Gripp; Sarah M Nikkel; Thea Worthylake; Christopher T Sullivan; Thomas R Ward; Hailly E Butler; Nancy A Kramer; Beate Albrecht; Christine M Armour; Linlea Armstrong; Oana Caluseriu; Cheryl Cytrynbaum; Beth A Drolet; A Micheil Innes; Julie L Lauzon; Angela E Lin; Grazia M S Mancini; Wendy S Meschino; James D Reggin; Anand K Saggar; Tally Lerman-Sagie; Gökhan Uyanik; Rosanna Weksberg; Birgit Zirn; Chandree L Beaulieu; Jacek Majewski; Dennis E Bulman; Mark O'Driscoll; Jay Shendure; John M Graham; Kym M Boycott; William B Dobyns Journal: Nat Genet Date: 2012-06-24 Impact factor: 38.330
Authors: Ghayda Mirzaa; Andrew E Timms; Valerio Conti; Evan August Boyle; Katta M Girisha; Beth Martin; Martin Kircher; Carissa Olds; Jane Juusola; Sarah Collins; Kaylee Park; Melissa Carter; Ian Glass; Inge Krägeloh-Mann; David Chitayat; Aditi Shah Parikh; Rachael Bradshaw; Erin Torti; Stephen Braddock; Leah Burke; Sondhya Ghedia; Mark Stephan; Fiona Stewart; Chitra Prasad; Melanie Napier; Sulagna Saitta; Rachel Straussberg; Michael Gabbett; Bridget C O'Connor; Catherine E Keegan; Lim Jiin Yin; Angeline Hwei Meeng Lai; Nicole Martin; Margaret McKinnon; Marie-Claude Addor; Luigi Boccuto; Charles E Schwartz; Agustina Lanoel; Robert L Conway; Koenraad Devriendt; Katrina Tatton-Brown; Mary Ella Pierpont; Michael Painter; Lisa Worgan; James Reggin; Raoul Hennekam; Karen Tsuchiya; Colin C Pritchard; Mariana Aracena; Karen W Gripp; Maria Cordisco; Hilde Van Esch; Livia Garavelli; Cynthia Curry; Anne Goriely; Hulya Kayserilli; Jay Shendure; John Graham; Renzo Guerrini; William B Dobyns Journal: JCI Insight Date: 2016-06-16