Ultrasound Research Today is a free monthly online journal that collates and summarizes the latest research about Ultrasound, including details on screening, diagnosis, pregnancy, detection.

Prenatal diagnosis of absence of the septum pellucidum associated with septo-optic dysplasia.

Lepinard C, Coutant R, Boussion F, Loisel D, Delorme B, Biquard F, Bonneau D, Guichet A, Descamps P

Department of Obstetrics and Gynecology, CHU Angers, 90 bis rue de Létanduère, 49000 Angers, France. catherinelepinard@voila.fr

Septo-optic dysplasia (SOD; De Morsier syndrome) is a rare congenital disorder characterized by the absence of the septum pellucidum (SP), hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. We report on two fetuses with absence of the SP diagnosed by ultrasound examination at 29 and 30 gestational weeks. In the first case the diagnosis of SOD was suspected in utero and confirmed postnatally; to the best of our knowledge this is the first report of the prenatal diagnosis of SOD. In the second case absence of the SP appeared to be isolated and no visual or endocrine impairment were detected after birth.

Published 3 February 2005 in Ultrasound Obstet Gynecol, 25(1): 73-5.
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