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Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Kline, Antonie D ; Moss, Joanna F ; Selicorni, Angelo ; Bisgaard, Anne-Marie ; Deardorff, Matthew A ; Gillett, Peter M ; Ishman, Stacey L ; Kerr, Lynne M ; Levin, Alex V ; Mulder, Paul A ; Ramos, Feliciano J ; Wierzba, Jolanta ; Ajmone, Paola Francesca ; Axtell, David ; Blagowidow, Natalie ; Cereda, Anna ; Costantino, Antonella ; Cormier-Daire, Valerie ; FitzPatrick, David ; Grados, Marco ; Groves, Laura ; Guthrie, Whitney ; Huisman, Sylvia ; Kaiser, Frank J ; Koekkoek, Gerritjan ; Levis, Mary ; Mariani, Milena ; McCleery, Joseph P ; Menke, Leonie A ; Metrena, Amy ; O'Connor, Julia ; Oliver, Chris ; Pie, Juan ; Piening, Sigrid ; Potter, Carol J ; Quaglio, Ana L ; Redeker, Egbert ; Richman, David ; Rigamonti, Claudia ; Shi, Angell ; Tümer, Zeynep ; Van Balkom, Ingrid D C ; Hennekam, Raoul C

Nature reviews. Genetics, 2018-10, Vol.19 (10), p.649-666 [Periódico revisado por pares]

England: Nature Publishing Group

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Título:
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Autor: Kline, Antonie D ; Moss, Joanna F ; Selicorni, Angelo ; Bisgaard, Anne-Marie ; Deardorff, Matthew A ; Gillett, Peter M ; Ishman, Stacey L ; Kerr, Lynne M ; Levin, Alex V ; Mulder, Paul A ; Ramos, Feliciano J ; Wierzba, Jolanta ; Ajmone, Paola Francesca ; Axtell, David ; Blagowidow, Natalie ; Cereda, Anna ; Costantino, Antonella ; Cormier-Daire, Valerie ; FitzPatrick, David ; Grados, Marco ; Groves, Laura ; Guthrie, Whitney ; Huisman, Sylvia ; Kaiser, Frank J ; Koekkoek, Gerritjan ; Levis, Mary ; Mariani, Milena ; McCleery, Joseph P ; Menke, Leonie A ; Metrena, Amy ; O'Connor, Julia ; Oliver, Chris ; Pie, Juan ; Piening, Sigrid ; Potter, Carol J ; Quaglio, Ana L ; Redeker, Egbert ; Richman, David ; Rigamonti, Claudia ; Shi, Angell ; Tümer, Zeynep ; Van Balkom, Ingrid D C ; Hennekam, Raoul C
Assuntos: Cohesin ; Consensus ; Consensus Statement ; Daughters ; De Lange Syndrome - diagnosis ; De Lange Syndrome - genetics ; De Lange Syndrome - physiopathology ; De Lange Syndrome - therapy ; De Lange's syndrome ; Genetic Association Studies ; High-Throughput Nucleotide Sequencing ; Humans ; Medical diagnosis ; Mutation ; Phenotypes
É parte de: Nature reviews. Genetics, 2018-10, Vol.19 (10), p.649-666
Notas: ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
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ObjectType-Review-1
Descrição: Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.
Editor: England: Nature Publishing Group
Idioma: Inglês

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Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

England: Nature Publishing Group

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