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: mwisniew@amp.edu.pl