title: Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?
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 × 10(9)  L. 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).
authors.affiliation: Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Milano Bicocca University, Monza, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Cavalleri
authors.affiliation: Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Milano Bicocca University, Monza, Italy.
authors.forename: Laura R
authors.initials: LR
authors.lastname: Bettini
authors.affiliation: Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Milano Bicocca University, Monza, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Barboni
authors.affiliation: Department of Pediatrics, Papa Giovanni XXIII Hospital, Bergamo, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Cereda
authors.affiliation: Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Milano Bicocca University, Monza, Italy.
authors.forename: Milena
authors.initials: M
authors.lastname: Mariani
authors.affiliation: Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Milano Bicocca University, Monza, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Spinelli
authors.affiliation: Division of Medical Genetics, San Paolo School of Medicine, University of Milano, Milano, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Gervasini
authors.affiliation: IRCCS Istituto Auxologico Italiano, Milan, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Russo
authors.affiliation: Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Milano Bicocca University, Monza, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Biondi
authors.affiliation: Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Milano Bicocca University, Monza, Italy.
authors.forename: Momcilo
authors.initials: M
authors.lastname: Jankovic
authors.affiliation: Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Milano Bicocca University, Monza, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
mesh_terms: D000293:Adolescent; D000328:Adult; D018797:Cell Cycle Proteins; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003635:De Lange Syndrome / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D011506:Proteins / Q000235:genetics*; D013921:Thrombocytopenia / Q000453:epidemiology* / Q000235:genetics; D055815:Young Adult
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins
keywords: CdLS; ITP; thrombocytopenia