Muscle-eye-brain disease and Walker-Warburg syndrome
โ Scribed by Santavuori, Pirkko ;Pihko, Helena ;Sainio, Kimmo ;Lappi, Marjatta ;Somer, Hannu ;Haltia, Matti ;Raitta, Christina ;Ketonen, Leena ;Leisti, Jaakko
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 140 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0148-7299
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Two sibs are reported with Walker-Warburg syndrome including hydrocephalus, agyria, anterior chamber dysgenesis, and encephalocele. In addition, both had cleft lip
Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterized by diffuse neurodysplasia, resulting in brain and eye abnormalities. We report on 3 prenatally diagnosed cases of this syndrome born to a consanguineous couple. An ultrasonographic examination showed hydrocephalus at th