We report on a male with severe mental retardation, epilepsy, short stature, and skeletal dysplasia. The syndrome was first delineated by Gurrieri et al. in 1992 [Am J Med Genet 44:315-320]. This case seems to confirm the existence of the Gurrieri syndrome.
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The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/8882779