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 | |
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