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Short stature, brachydactyly, nail dysplasia, and mental retardation: Further observation of the Tonoki syndrome

✍ Scribed by Sorge, Giovanni; Baieli, Sabrina; Mauceri, Laura; Greco, Filippo; Fiumara, Agata

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 17 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981204)80:4<403::aid-ajmg19>3.0.co;2-8

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✦ Synopsis

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.

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