Additional eye findings in a girl with the velo‐cardio‐facial syndrome

Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome

“…22qDS is characterized by a variable phenotype that includes palatal abnormalities, characteristic facial features, congenital heart and other birth defects, and learning disabilities . Structural abnormalities of the brain have also been associated with the syndrome (Beemer et al 1986;Bingham et al 1997;Chow et al 1999;Mitnick et al 1994). Over 25% of adult patients with 22qDS develop psychotic disorders, predominantly schizophrenia (Murphy et al 1999).…”

“…Reported abnormalities include minor midline defects, focal white matter foci visible on T2-weighted magnetic resonance imaging (MRI) images, sulcal and ventricular enlargement, hypoplastic corpus callosum, small posterior fossa, and hypoplasia of cerebellar vermis (Altman et al 1995;Beemer et al 1986;Bingham et al 1997;Haapanen and Somer 1993;Lynch et al 1995;McDonald-McGinn et al 1995;Mitnick et al 1994). A quantitative MRI study by Eliez et al (2000) reported smaller total brain volumes, especially white matter volumes, greater corrected frontal lobe volume, and greater ventricle-to-brain volume ratios in 15 children and adolescents with 22qDS when compared with age-and gender-matched healthy controls.…”

Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia

“…Common features include congenital heart defects, palatal abnormalities, typical facial features, and central nervous system manifestations such as learning disabilities and mental retardation. Structural abnormalities of the brain and skull have also been associated with the syndrome (Altman et al 1995;Arvystas and Shprintzen 1984;Beemer et al 1986;Bingham et al 1997;Finkelstein et al 1993). In adulthood, approximately 25% of patients with 22qDS may suffer from a psychotic disorder, including schizophrenia (Murphy and Owen 1997;Pulver et al 1994;Shprintzen et al 1992).…”

“…There are reported minor midline defects, however, including CSP (Vataja and Elomaa 1998) or CV (Haapanen and Somer 1993), cysts of the septum pellucidum (Haapanen and Somer 1993) or cysts adjacent to the anterior horns (Mitnick et al 1994), hypoplastic corpus callosum (Conley et al 1979;Ryan et al 1997), empty sella (Haapanen and Somer 1993), and small pituitary gland (Bingham et al 1997). Case studies and case series have described cerebral atrophy, enlargement of sulci and ventricles (Beemer et al 1986;Bingham et al 1997;Haapanen and Somer 1993;Ryan et al 1997), cerebellar atrophy, and small posterior fossa (Lynch et al 1995;Mitnick et al 1994;Ryan et al 1997). Severe developmental anomalies such as hydrocephalus (Bingham et al 1997;Nickel et al 1994;Ryan et al 1997), holoprosencephaly (Wraith et al 1985), and anencephaly (Strong 1968) have been reported.…”

“…Because of reported skull and vertebral abnormalities (Arvystas and Shprintzen 1984;Beemer et al 1986;Finkelstein et al 1993;Ming et al 1997;Ryan et al 1997), the skull base structures were assessed. In addition, cerebral and cervical arteries were also assessed using magnetic resonance angiography (MRA) because of a reported high prevalence of carotid and vertebral arterial anomalies in 22qDS (Goldberg et al 1993;MacKenzie-Stepner et al 1986;Mitnick et al 1996).…”