Mental retardation, epilepsy, short stature, and skeletal dysplasia: confirmation of the Gurrieri syndrome.

Abstract

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.

• Authors: A Battaglia, E Orsitto, G Gibilisco
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 62 Issue 3 Pg. 230-2 (Mar 29 1996) ISSN: 0148-7299 [Print] United States
• PMID: 8882779 (Publication Type: Journal Article)

Topics

• Adolescent
• Adult
• Dwarfism (complications)
• Epilepsy (complications)
• Humans
• Intellectual Disability (complications)
• Orofaciodigital Syndromes (complications, pathology)
• Pelvic Bones (abnormalities, diagnostic imaging)
• Psychomotor Disorders (complications, pathology)
• Radiography
• Syndrome