Research Information System
FETAL DIAGNOSIS AND THERAPY, vol.25, no.1, pp.119-122, 2009 (SCI-Expanded)
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. Copyright (C) 2009 S. Karger AG, Basel