Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a
K Devriendt1, L D'Espallier, J P Fryns
1Centre for Human Genetics, University of Leuven, Belgium.
Abstract:
We present a child with severe mental retardation, a central nervous system malformation, signs of ectodermal dysplasia, and a distinct craniofacial dysmorphism. Similar but less pronounced craniofacial features were present in the mildly mentally retarded mother. This observation confirms a previous report of a boy with the same MCA-MR syndrome and suggests X linked or autosomal dominant inheritance.
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