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[Walker-Warburg syndrome: experience at the Virgen de la Arrixaca Hospital].
- Source :
-
Anales espanoles de pediatria [An Esp Pediatr] 1992 Mar; Vol. 36 (3), pp. 213-7. - Publication Year :
- 1992
-
Abstract
- We report five patients with Walker-Warburg syndrome. These patients showed congenital hydrocephalus, encephalocele, agyria, ocular abnormalities (cataracts in 100%), and in four signs of muscular dystrophy. No cause is known for theses abnormalities. Death occurred before two years of age; however, one patient is currently alive with 6 months of age. This disease is recognized as a genetically determined condition with an autosomal recessive mode of inheritance. We comment on the similarities of this syndrome with other syndromes and the latest investigations concerning the pathogenesis. We believe that it is very important to suspect this illness in order that genetic counseling can be offered.
- Subjects :
- Abnormalities, Multiple pathology
Brain pathology
Consanguinity
Encephalocele complications
Encephalocele genetics
Eye Abnormalities complications
Female
Humans
Hydrocephalus complications
Hydrocephalus genetics
Hydrocephalus pathology
Infant, Newborn
Male
Muscular Dystrophies genetics
Spain
Abnormalities, Multiple genetics
Brain abnormalities
Eye Abnormalities genetics
Muscular Dystrophies complications
Subjects
Details
- Language :
- Spanish; Castilian
- ISSN :
- 0302-4342
- Volume :
- 36
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Anales espanoles de pediatria
- Publication Type :
- Academic Journal
- Accession number :
- 1580433