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.

journal_name

Fetal Diagn Ther

authors

Tanrikulu F,Korucuoglu U,Efeturk T,Yildirim FD,Biri A

doi

10.1159/000207450

subject

Has Abstract

pub_date

2009-01-01 00:00:00

pages

119-22

issue

1

eissn

1015-3837

issn

1421-9964

pii

000207450

journal_volume

25

pub_type

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