Literature DB >> 8278176

Walker-Warburg syndrome: a report of 3 cases.

D Denis1, D Gambarelli, A Luciani, S Aymé, N Philip, J B Saracco.   

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.

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Year:  1993        PMID: 8278176     DOI: 10.1159/000310416

Source DB:  PubMed          Journal:  Ophthalmologica        ISSN: 0030-3755            Impact factor:   3.250


  2 in total

1.  A novel pattern of oculocerebral malformation.

Authors:  B J Clark; W R Lee; D Doyle; R Arngrimsson; J L Tolmie; J B Stephenson
Journal:  Br J Ophthalmol       Date:  1997-06       Impact factor: 4.638

2.  Bilateral total retinal detachment at birth: a case report of Walker-Warburg syndrome.

Authors:  Navid Hakim; Cristina Soare; Jamil Hakim
Journal:  Int Med Case Rep J       Date:  2018-01-09
  2 in total

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