A new case of DOOR syndrome.
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.
Wiśniewska
Marzena
M
Chair and Department of Medical Genetics, Poznań University of Medical Sciences, Grunwaldzka 55, pav.15, 60-352 Poznań, Poland. mwisniew@amp.edu.pl
Siwińska
Zofia
Z
Felczak
Michał
M
Wielkoszyński
Tomasz
T
Krawczyński
Maciej
M
Latos-Bieleńska
Anna
A
D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics*; D005260:Female; D050278:Finger Phalanges / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000235:genetics; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009264:Nails, Malformed / Q000235:genetics*; D013577:Syndrome; D050277:Toe Phalanges / Q000002:abnormalities*