Brief report: acrocallosal syndrome and autism.
The authors describe a boy presenting with acrocallosal syndrome and autism. Clinical features included craniofacial dysmorphisms, polydactyly, and mental retardation, besides behavioral symptoms compatible with autism. Neuroimaging revealed hypoplasia of the corpus callosum and cerebellar abnormalities. The role of this entity and other associated conditions in autism may be coincidental or reveal new clues to the understanding of autism as a behavioral syndrome.
Steiner
Carlos Eduardo
CE
Department of Medical Genetics, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
Guerreiro
Marilisa Mantovani
MM
Marques-de-Faria
Antonia Paula
AP
D061085:Agenesis of Corpus Callosum; D001321:Autistic Disorder / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology*; D002531:Cerebellum / Q000002:abnormalities; D002653:Child Behavior Disorders / Q000150:complications; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications; D039721:Diagnostic and Statistical Manual of Mental Disorders; D005528:Foot; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008279:Magnetic Resonance Imaging; D008297:Male; D017689:Polydactyly / Q000150:complications; D013577:Syndrome