An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation.
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.
Buttiens
M
M
Centre for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009216:Myopia / Q000235:genetics*; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed