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 <150×109L. 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).

Cavalleri, V., Bettini, L.R., Barboni, C., Cereda, A., Mariani, M., Spinelli, M., et al. (2016). Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 170(1), 130-134 [10.1002/ajmg.a.37390].

Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?

CAVALLERI, VALERIA
Primo
;
BETTINI, LAURA RACHELE
Secondo
;
BARBONI, CHIARA;SPINELLI, MARCO;RUSSO, SILVIA;BIONDI, ANDREA;
2016

Abstract

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 <150×109L. 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).
Articolo in rivista - Articolo scientifico
CdLS; ITP; Thrombocytopenia;
CdLS; ITP; Thrombocytopenia
English
130
134
5
Cavalleri, V., Bettini, L.R., Barboni, C., Cereda, A., Mariani, M., Spinelli, M., et al. (2016). Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 170(1), 130-134 [10.1002/ajmg.a.37390].
Cavalleri, V; Bettini, L; Barboni, C; Cereda, A; Mariani, M; Spinelli, M; Gervasini, C; Russo, S; Biondi, A; Jankovic, M; Selicorni, A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/97351
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