WALKER-WARBURG SYNDROME - A REPORT OF 3 CASES

Citation
D. Denis et al., WALKER-WARBURG SYNDROME - A REPORT OF 3 CASES, Ophthalmologica, 207(3), 1993, pp. 113-116
Citations number
23
Categorie Soggetti
Ophthalmology
Journal title
ISSN journal
00303755
Volume
207
Issue
3
Year of publication
1993
Pages
113 - 116
Database
ISI
SICI code
0030-3755(1993)207:3<113:WS-ARO>2.0.ZU;2-5
Abstract
Walker-Warburg syndrome is a congenital malformation syndrome of unkno wn etiology which is characterized by fatal neurological lesions. It w as first described by Walker in 1942 as involving agyria, hydrocephalu s and eye malformations. Its etiology has been discussed in all of the articles on the subject in the literature, but the majority of the au thors describe it as an autosomal recessive syndrome. Ultrasonography plays a key role in detecting a cephalic anomaly by prenatal diagnosis as in our 2 cases. The aim of this article is to report 3 new cases o f Walker-Warburg syndrome in two families. Knowledge of this syndrome emphasizes both the need for ultrasonographic observation and genetic counselling for families at risk.