title: Case report: two patients with partial DiGeorge syndrome presenting with attention disorder and learning difficulties.
abstract: DiGeorge syndrome (DGS) has classically been characterized by the triad of clinical features including congenital cardiac defects, immune deficiencies secondary to aplasia or hypoplasia of the thymus, and hypocalcaemia due to small or absent parathyroid glands. The phenotypic features of these patients are much more variable and extensive than previously recognized. The acknowledgement of similarities and phenotypic overlap of DGS with other disorders associated with genetic defects in 22q11 has led to an expanded description of the phenotypic features of DGS including palatal/speech abnormalities, as well as cognitive, neurological and psychiatric disorders. Here, we report the cases of two DGS patients with dysmorphic facial features who were initially admitted to the Psychiatry Department for attention disorder and learning difficulties.
authors.affiliation: Ankara University School of Medicine, Department of Pediatric Endocrinology, Cebeci, Ankara, Turkey. hacihamdi@mynet.com
authors.forename: Bülent
authors.initials: B
authors.lastname: Hacıhamdioğlu
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoğlu
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Şıklar
authors.forename: Figen
authors.initials: F
authors.lastname: Doğu
authors.forename: Pelin
authors.initials: P
authors.lastname: Bilir
authors.forename: Şenay
authors.initials: Ş
authors.lastname: Savaş Erdeve
authors.forename: Aydan
authors.initials: A
authors.lastname: İkincioğulları
authors.forename: Gönül
authors.initials: G
authors.lastname: Öçal
mesh_terms: D000293:Adolescent; D001289:Attention Deficit Disorder with Hyperactivity / Q000209:etiology*; D004062:DiGeorge Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000523:psychology; D019066:Facies; D006801:Humans; D007859:Learning Disabilities / Q000209:etiology*; D008297:Male; D010641:Phenotype