title: A new report of Cornelia de Lange syndrome associated with split hand and feet.
abstract: We report on a boy with clinical and molecular diagnosis of Cornelia de Lange syndrome (CdLS). Besides the CdLS typical features, he shows split hand and split feet. To the best of our knowledge, only one other patient with similar finding has been reported in CdLS patients.
authors.affiliation: Ambulatorio Genetica Clinica Pediatrica, Clinica Pediatrica Università Milano Bicocca, Fondazione MBBM, AO S Gerardo, Monza, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Barboni
authors.forename: Anna
authors.initials: A
authors.lastname: Cereda
authors.forename: Milena
authors.initials: M
authors.lastname: Mariani
authors.forename: Cristina
authors.initials: C
authors.lastname: Gervasini
authors.forename: Paola
authors.initials: P
authors.lastname: Ajmone
authors.forename: Andrea
authors.initials: A
authors.lastname: Biondi
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
mesh_terms: D018797:Cell Cycle Proteins; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D005532:Foot Deformities, Congenital / Q000150:complications*; D016368:Frameshift Mutation; D006228:Hand Deformities, Congenital / Q000150:complications*; D006801:Humans; D008297:Male; D011506:Proteins / Q000235:genetics
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins