TY - JOUR
T1 - Diagnosis and management of Cornelia de Lange syndrome
T2 - first international consensus statement
AU - Kline, Antonie D.
AU - Moss, Joanna F.
AU - Selicorni, Angelo
AU - Bisgaard, Anne Marie
AU - Deardorff, Matthew A.
AU - Gillett, Peter M.
AU - Ishman, Stacey L.
AU - Kerr, Lynne M.
AU - Levin, Alex V.
AU - Mulder, Paul A.
AU - Ramos, Feliciano J.
AU - Wierzba, Jolanta
AU - Ajmone, Paola Francesca
AU - Axtell, David
AU - Blagowidow, Natalie
AU - Cereda, Anna
AU - Costantino, Antonella
AU - Cormier-Daire, Valerie
AU - FitzPatrick, David
AU - Grados, Marco
AU - Groves, Laura
AU - Guthrie, Whitney
AU - Huisman, Sylvia
AU - Kaiser, Frank J.
AU - Koekkoek, Gerritjan
AU - Levis, Mary
AU - Mariani, Milena
AU - McCleery, Joseph P.
AU - Menke, Leonie A.
AU - Metrena, Amy
AU - O’Connor, Julia
AU - Oliver, Chris
AU - Pie, Juan
AU - Piening, Sigrid
AU - Potter, Carol J.
AU - Quaglio, Ana L.
AU - Redeker, Egbert
AU - Richman, David
AU - Rigamonti, Claudia
AU - Shi, Angell
AU - Tümer, Zeynep
AU - Van Balkom, Ingrid D.C.
AU - Hennekam, Raoul C.
N1 - Funding Information:
No funding was received from pharmaceutical companies. The authors gratefully acknowledge the participation of all the international families and individuals with Cornelia de Lange syndrome. The authors apologize to the many authors whose work they were unable to cite because of space limitations. This work was supported by the Spanish Ministry of Health – Fondo de Investigación Sanitaria (FIS) [# PI12/01318; PI15/0707], the Diputación General de Aragón (Grupo Consolidado B20), IIS Aragón, GCV02-CIBERER, the Germany Federal Ministry of Education and Research (BMBF) [CHROMATIN-Net] and the European Social Fund (Construyendo Europa desde Aragón) to F.J.R. and J.P.
Publisher Copyright:
© 2018, Macmillan Publishers Ltd., part of Springer Nature.
Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 2018/10/1
Y1 - 2018/10/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85049684939&partnerID=8YFLogxK
U2 - 10.1038/s41576-018-0031-0
DO - 10.1038/s41576-018-0031-0
M3 - Scientific review articles
C2 - 29995837
AN - SCOPUS:85049684939
SN - 1471-0056
VL - 19
SP - 649
EP - 666
JO - Nature Reviews Genetics
JF - Nature Reviews Genetics
IS - 10
ER -