title: Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome.
abstract: Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre and post natal overgrowth, facial malformations, and visceral, skeletal, and neurological anomalies. The physical characteristics of SGBS have been well documented; however there is a lack of description regarding the behavioral phenotype. We report the case of a 6-year-old boy, with confirmed deletion of 6-8 exons of the glypican-3 gene (GPC3) who presents three distinctive findings: the persistence of the craniopharyngeal canal, an immune-allergic specificity, and a scarcely behavioral phenotype consisting in the association of Austim Spectrum Disorder with accompanying mild intellectual disability and language impairments. He also fulfilled the criteria of Attention Deficit Hyperactivity Disorder and Oppositional Defiant Disorder according to DSM 5 criteria. The specificities of the case are discussed in the light of recent pathophysiological data.
authors.affiliation: Department of Child Psychiatry, Razi Hospital, Manouba, Tunisia.|Faculty of Medicine of Tunis, Tunis, Tunisia.
authors.forename: Soumeyya
authors.initials: S
authors.lastname: Halayem
authors.affiliation: Faculty of Medicine of Tunis, Tunis, Tunisia.|Department of Child Psychiatry, Mongi Slim Hospital, La Marsa, Tunisia.
authors.forename: Mariem
authors.initials: M
authors.lastname: Hamza
authors.affiliation: Department of Human Genetics, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Faouzi
authors.initials: F
authors.lastname: Maazoul
authors.affiliation: Faculty of Medicine of Tunis, Tunis, Tunisia.|Department of Pediatrics, La Rabta Hospital, Tunis, Tunisia.
authors.forename: Hadhemi
authors.initials: H
authors.lastname: Ben Turkia
authors.affiliation: Department of Child Psychiatry, Razi Hospital, Manouba, Tunisia.
authors.forename: Maissa
authors.initials: M
authors.lastname: Touati
authors.affiliation: Faculty of Medicine of Tunis, Tunis, Tunisia.|Department of Pediatrics, La Rabta Hospital, Tunis, Tunisia.
authors.forename: Neji
authors.initials: N
authors.lastname: Tebib
authors.affiliation: Faculty of Medicine of Tunis, Tunis, Tunisia.|Department of Human Genetics, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Ridha
authors.initials: R
authors.lastname: Mrad
authors.affiliation: Department of Child Psychiatry, Razi Hospital, Manouba, Tunisia.|Faculty of Medicine of Tunis, Tunis, Tunisia.
authors.forename: Asma
authors.initials: A
authors.lastname: Bouden
mesh_terms: D001145:Arrhythmias, Cardiac / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D005091:Exons; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D005877:Gigantism / Q000175:diagnosis* / Q000235:genetics; D053673:Glypicans / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009154:Mutation; D010641:Phenotype
chemical_list: C105937:GPC3 protein, human; D053673:Glypicans
keywords: GPC3; Simpson-Golabi-Behmel syndrome; autism spectrum disorders; behavioral phenotype