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

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

Original languageEnglish
JournalNature Reviews. Genetics
Volume19
Issue number10
Pages (from-to)649-666
Number of pages18
ISSN1471-0056
DOIs
Publication statusPublished - Oct 2018

ID: 55839702