Mental retardation, epilepsy, short stature, and skeletal dysplasia: Confirmation of the Gurrieri syndrome
β Scribed by Battaglia, Agatino; Orsitto, Eugenio; Gibilisco, Gaetano
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 16 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
β¦ Synopsis
This case seems to confirm the existence of the Gurrieri syndrome.
π SIMILAR VOLUMES
propositus has brachydactyly of thumbs and a similar physiognomy without mental retardation. This appears to be another observation of the Tonoki syndrome, a distinct autosomal dominant or X-linked clinical entity.
In 1995, Tsukahara et al. reported on a 9-yearold boy with radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation, a previously unreported syndrome. We now describe an 8-year-old Israeli Arab girl who appears to have the same condition. Her parents were first cousins,
## Abstract This is a report of a 16βyearβold boy with mental deficiency, shortness of stature, peculiar face and skull, multiple skeletal anomalies, limb contractures, total alopecia, and probable hypothalamic hypogonadism. A striking resemblance exists between this case and a female adolescent de