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Rubinstein-Taybi syndrome: A follow-up study

✍ Scribed by Partington, M. W.

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 442 KB
Volume: 37
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320370611

No coin nor oath required. For personal study only.

✦ Synopsis

Eighteen patients with a diagnosis of the Rubinstein-Taybi syndrome (RTS) 18 to 23 years ago were traced and the survivors were seen personally. The diagnosis was confirmed in 11 patients. Three of these, all women, had died (ages 9, 37, and 52 years) from infections. The remaining 8 were doing well despite a variety of medical problems including structural lesions of the eyes, severe dental caries, gastroesophageal reflux, and mild keloid scarring. The original diagnosis could not be confirmed in 7 patients although some characteristics of the RTS were found in each. One patient was thought to have the Cornelia de Lange syndrome, and one the Ruvalcaba syndrome but no formal diagnosis was reached in the others.

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