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An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker
M Buttiens1, J P Fryns, H van den Berghe
1Centre for Human Genetics, University of Leuven, Belgium.
Clinical Genetics
|December 1, 1989
Abstract:
In this report we describe an apparently new MCA-MR syndrome with Dandy-Walker malformation in three severely mentally retarded siblings born to normal, non-consanguineous parents. In addition, they presented macrocephaly, facial dysmorphism, extreme myopia and brachytelephalangy with short and broad finger-nails.