New syndrome of mental retardation, Robin sequence, and brachydactyly
β Scribed by Gurrieri, Fiorella ;Steindl, Katharina ;Giglio, Sabrina ;Neri, Giovanni
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 151 KB
- Volume
- 100
- Category
- Article
- ISSN
- 0148-7299
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We report on 2 patients with the Neuhauser megalocornea-mental retardation syndrome, a recessively inherited clinical entity of relatively recent description (McKusick 24931). A review of the few previous reported patients and our 2 patients shows that megalocornea and mental retardation are the 2 m
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.