Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?

Valeria Cavalleri, Laura R. Bettini, Chiara Barboni, Anna Cereda, Milena Mariani, Marco Spinelli, Cristina Gervasini, Silvia Russo, Andrea Biondi, Momcilo Jankovic, Angelo Selicorni

Research output: Contribution to journalArticlepeer-review


Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder caused by mutations in the cohesion complex and its regulators. The syndrome is characterized by multiple organ system abnormalities, pre- and post-natal growth retardation and typical facial features. Thrombocytopenia is a reduction in platelet count to 9L. It can be caused by congenital or acquired decreased production, increased destruction, or sequestration of platelets. In recent years, several papers reported thrombocytopenia and immune thrombocytopenia in patients affected by CdLS. In 2011, Lambert et al. estimated the risk of idiopathic thrombocytopenia purpura in CdLS patients to be 31-633 times greater than in the general population. We describe the incidence of thrombocytopenia in 127 Italian CdLS patients, identifying patients with transient or persistent thrombocytopenia, but a lower incidence of true idiopathic thrombocytopenic purpura (ITP).

Original languageEnglish
Pages (from-to)130-134
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number1
Publication statusPublished - Jan 1 2016


  • CdLS
  • ITP
  • Thrombocytopenia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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