title: Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder.
abstract: Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings. To date 24 cases have been reported, most of them being sporadic. The genetic background of Nicolaides-Baraitser syndrome is unclear in terms of cause and mode of inheritance, one of the more probable explanations is de novo mutation of a dominant gene. Some reported patients presented autistic features, although in none of these patients was the diagnosis of autism spectrum disorder formally made. We describe two unrelated patients with clinical features suggesting Nicolaides-Baraitser syndrome and, in addition, autism spectrum disorder is defined by the presence of the three cardinal core features: qualitative impairments in social, communicative, and behavioral development.
authors.affiliation: Department of Medical Genetics, University of Pavia, Pavia Department of Neurological and Psychiatric Sciences, Section of Child Neurology and Psychiatry, Policlinico Careggi, University of Florence Percorso Autismo, ASL, Florence Department of Medical Genetics, Division of Pediatrics, IRCCS Fondazione Policlinico, University of Milan, Milan Division of Pediatry and Neonatology, Ospedale San Martino, Belluno, Italy.
authors.forename: Simone
authors.initials: S
authors.lastname: Gana
authors.forename: Michela
authors.initials: M
authors.lastname: Panizzon
authors.forename: Daniela
authors.initials: D
authors.lastname: Fongaro
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
authors.forename: Luigi
authors.initials: L
authors.lastname: Memo
authors.forename: Valeria
authors.initials: V
authors.lastname: Scandurra
authors.forename: Chiara
authors.initials: C
authors.lastname: Vannucci
authors.forename: Marta
authors.initials: M
authors.lastname: Bigozzi
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: Scordo
mesh_terms: D002648:Child; D002659:Child Development Disorders, Pervasive / Q000150:complications* / Q000503:physiopathology; D002675:Child, Preschool; D003071:Cognition / Q000502:physiology; D019066:Facies; D005260:Female; D005532:Foot Deformities, Congenital / Q000150:complications / Q000503:physiopathology; D006801:Humans; D007039:Hypotrichosis / Q000150:complications / Q000503:physiopathology; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000503:physiopathology; D011247:Pregnancy