Mental retardation, epilepsy, short stature, and skeletal dysplasia: confirmation of the Gurrieri syndrome.
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.
Battaglia
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A
Istituto di Neuropsichiatria e Psicopedagogia dell'età Evolutiva dell'Università di Pisa, Italy.
Orsitto
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E
Gibilisco
G
G
D000293:Adolescent; D000328:Adult; D004392:Dwarfism / Q000150:complications*; D004827:Epilepsy / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D009958:Orofaciodigital Syndromes / Q000150:complications* / Q000473:pathology; D010384:Pelvic Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011596:Psychomotor Disorders / Q000150:complications* / Q000473:pathology; D011859:Radiography; D013577:Syndrome