[Walker-Warburg syndrome: experience at the Virgen de la Arrixaca Hospital].
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.
Fernández Martínez
M D
MD
Servicio de Pediatría y de Neurocirugía del Hospital V. de la Arrixaca, Murcia.
Rodríguez Sánchez
F
F
Martínez-Lage Sánchez
J F
JF
Rodríguez Costa
T
T
Puche Miras
A
A
Casas Fernández
C
C
Almagro Navarro
M J
MJ
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D003241:Consanguinity; D004677:Encephalocele / Q000150:complications / Q000235:genetics; D005124:Eye Abnormalities / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000235:genetics / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics; D013030:Spain
Síndrome de Walker-Warburg: experiencia del Hospital Virgen de la Arrixaca.