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

Agatino Battaglia; Eugenio Orsitto; Gaetano Gibilisco

doi:10.1002/(SICI)1096-8628(19960329)62:3<230::AID-AJMG6>3.0.CO;2-X

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

Agatino Battaglia, Eugenio Orsitto, Gaetano Gibilisco

Fondazione Stella Maris

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	230-232
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	62
Issue number	3
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3<230::AID-AJMG6>3.0.CO;2-X
Publication status	Published - Mar 29 1996

Keywords

autosomal recessive inheritance
epilepsy
Gurrieri syndrome
mental retardation
multiple congenital anomalies
skeletal dysplasia

ASJC Scopus subject areas

Genetics(clinical)
Neuroscience(all)
Neuropsychology and Physiological Psychology

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10.1002/(SICI)1096-8628(19960329)62:3<230::AID-AJMG6>3.0.CO;2-X

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title = "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.",

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author = "Agatino Battaglia and Eugenio Orsitto and Gaetano Gibilisco",

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AU - Orsitto, Eugenio

AU - Gibilisco, Gaetano

PY - 1996/3/29

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KW - multiple congenital anomalies

KW - skeletal dysplasia

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

Abstract

Keywords

ASJC Scopus subject areas

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