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[Rubinstein-Taybi syndrome].

作者信息

Grković Slobodanka, Jesić Milos, Jesić Maja, Maglajlić Svjetlana

出版信息

Srp Arh Celok Lek. 2004 Oct;132 Suppl 1:109-10. doi: 10.2298/sarh04s1109g.

Abstract

Rubinstein-Taybi syndrome is a malformation occurring with approximate incidence of 1 per 10,000 live-born children. The diagnosis is usually based on specific facial dysmorphism in neonatal period, as well as on characteristic deformities of the hands and feet. Our study presents a male child who was diagnosed to have Rubinstein-Taybi syndrome when he was one month old. The child had all characteristic clinical features. In further follow-up period, corrective surgery and control of his psychomotor development are being planned.

摘要

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