title: An 8.9 year old girl with autism and Gorlin syndrome.
abstract: We present an 8.9 year old girl diagnosed with autism and macrocrania. Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding a deletion of 22 base pairs in the PTCH1 gene. The possibility of an association between autism and Gorlin syndrome is discussed.
authors.affiliation: Department of Child and Adolescent Psychiatry, Catholic University of Leuven, Leuven, Belgium.
authors.forename: Hanne
authors.initials: H
authors.lastname: Delbroek
authors.forename: Jean
authors.initials: J
authors.lastname: Steyaert
authors.forename: Eric
authors.initials: E
authors.lastname: Legius
mesh_terms: D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000172:deficiency / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface