title: Cervical spine malformation in cornelia de lange syndrome: a report of three patients.
abstract: Cornelia de Lange syndrome (CdLS) is a complex genetic disease with skeletal involvement mostly related to upper limb malformations. We report on three males with clinical and molecular diagnoses of CdLS. Besides typical CdLS features, all showed different cervical spine malformations. To the best of our knowledge, this is an unusual malformation in the CdLS phenotypic spectrum.
authors.affiliation: Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Pediatric Genetic Unit, San Gerardo Hospital, Monza, Italy.
authors.forename: Laura Rachele
authors.initials: LR
authors.lastname: Bettini
authors.forename: Laura
authors.initials: L
authors.lastname: Locatelli
authors.forename: Milena
authors.initials: M
authors.lastname: Mariani
authors.forename: Paola
authors.initials: P
authors.lastname: Cianci
authors.forename: Carlo
authors.initials: C
authors.lastname: Giussani
authors.forename: Francesco
authors.initials: F
authors.lastname: Canonico
authors.forename: Anna
authors.initials: A
authors.lastname: Cereda
authors.forename: Silvia
authors.initials: S
authors.lastname: Russo
authors.forename: Cristina
authors.initials: C
authors.lastname: Gervasini
authors.forename: Andrea
authors.initials: A
authors.lastname: Biondi
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
mesh_terms: D018797:Cell Cycle Proteins; D002574:Cervical Vertebrae / Q000002:abnormalities*; D003635:De Lange Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D011506:Proteins / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics; D038062:Upper Extremity Deformities, Congenital / Q000235:genetics* / Q000473:pathology
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins
keywords: NIPBL; cervical spine malformation; cornelia de lange syndrome