Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder.
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.
Gana
Simone
S
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.
Panizzon
Michela
M
Fongaro
Daniela
D
Selicorni
Angelo
A
Memo
Luigi
L
Scandurra
Valeria
V
Vannucci
Chiara
C
Bigozzi
Marta
M
Scordo
Maria Rosaria
MR
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