title: Walker-Warburg syndrome: a report of 3 cases.
abstract: Walker-Warburg syndrome is a congenital malformation syndrome of unknown etiology which is characterized by fatal neurological lesions. It was first described by Walker in 1942 as involving agyria, hydrocephalus and eye malformations. Its etiology has been discussed in all of the articles on the subject in the literature, but the majority of the authors 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 of Walker-Warburg syndrome in two families. Knowledge of this syndrome emphasizes both the need for ultrasonographic observation and genetic counselling for families at risk.
authors.affiliation: Department of Ophthalmology, Timone University Hospital, Marseille, France.
authors.forename: D
authors.initials: D
authors.lastname: Denis
authors.forename: D
authors.initials: D
authors.lastname: Gambarelli
authors.forename: A
authors.initials: A
authors.lastname: Luciani
authors.forename: S
authors.initials: S
authors.lastname: Aymé
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: J B
authors.initials: JB
authors.lastname: Saracco
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics*; D006965:Hyperplasia; D008297:Male; D011247:Pregnancy; D012160:Retina / Q000473:pathology; D014463:Ultrasonography