Journal of Applied Genetics 49(1), 2008, pp. 101-103
A new case of DOOR syndrome
Marzena Wisniewska, Zofia Siwinska, Michal Felczak, Tomasz Wielkoszynski, Maciej Krawczynski, Anna Latos-Bielenska
Abstract: We present the case of a 9-year-old boy with DOOR syndrome recognized in the first year of his life because of a delayed development of speech. The diagnosis was based on characteristic abnormalities, including congenital deafness, nail and bone abnormalities, and mild mental retardation.
Key words: deafness, DOOR syndrome, DOORS syndrome, Feinmesser-Zelig syndrome, mental retardation, onychodystrophy, osteodystrophy.
Correspondence: M. Wisniewska, Chair and Department of Medical Genetics, Grunwaldzka 55, pav.15, 60-352 Poznan; Poland; e-mail: firstname.lastname@example.org
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