title: Recurrent septo-optic dysplasia accompanied by omphalocele: a case report.
abstract: Septo-optic dysplasia, also known as de Morsier syndrome, is a rare congenital entity almost always characterized by hypoplasia/dysplasia of the optical nerve, chiasma or optic radiations and the complete or partial absence of the septum pellucidum. It may also be accompanied by other malformations, including multiple facial dysmorphism, midline defects, cleft lip and palate, musculoskeletal and other non-neurological eye features. Various cases have been reported which have presented various combinations of symptoms and stigmata of the syndrome. We here present a unique case of septo-optic dysplasia with familial repetition, a considerably early antenatal diagnosis and an accompanying omphalocele, a feature never before connected with the syndrome.
authors.affiliation: Gazi University, Faculty of Medicine, Department of Obstetrics and Gynecology, Ankara, Turkey.
authors.forename: Filiz
authors.initials: F
authors.lastname: Tanrikulu
authors.forename: Umit
authors.initials: U
authors.lastname: Korucuoglu
authors.forename: Tunay
authors.initials: T
authors.lastname: Efeturk
authors.forename: Fatma Doga
authors.initials: FD
authors.lastname: Yildirim
authors.forename: Aydan
authors.initials: A
authors.lastname: Biri
mesh_terms: D037881:Aborted Fetus / Q000473:pathology; D000328:Adult; D005260:Female; D006554:Hernia, Umbilical / Q000150:complications / Q000000981:diagnostic imaging*; D006801:Humans; D011247:Pregnancy; D025962:Septo-Optic Dysplasia / Q000150:complications / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal