Macrocephaly, distinct craniofacial appearance and spastic paraplegia: an autosomal recessive subtype of complicated spastic paraplegia |
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| Authors: | J. P. Fryns M. Hellemans H. Van den Berghe |
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| Affiliation: | Centre for Human Genetics, University of Leuven, Belgium |
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| Abstract: | In this report we describe two siblings, a 15-year-old female and her 8-year-old brother, with spastic paraparesis, macrocephaly and distinct craniofacial appearance, as an apparent autosomal recessive subtype of complicated spastic paraplegia. |
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| Keywords: | autosomal recessive inheritance macrocephaly mental retardation spastic paraplegia |
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