A new case of DOOR syndrome

Marzena Wiśniewska; Zofia Siwińska; Michał Felczak; Tomasz Wielkoszyński; Maciej Krawczyński; Anna Latos-Bieleńska

doi:10.1007/BF03195254

A new case of DOOR syndrome

J Appl Genet. 2008;49(1):101-3. doi: 10.1007/BF03195254.

Authors

Marzena Wiśniewska¹, Zofia Siwińska, Michał Felczak, Tomasz Wielkoszyński, Maciej Krawczyński, Anna Latos-Bieleńska

Affiliation

¹ Chair and Department of Medical Genetics, Poznań University of Medical Sciences, Grunwaldzka 55, pav.15, 60-352 Poznań, Poland. [email protected]

PMID: 18263975
DOI: 10.1007/BF03195254

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child
Child, Preschool
Deafness / genetics*
Female
Finger Phalanges / abnormalities*
Foot Deformities, Congenital / genetics
Genes, Recessive
Hand Deformities, Congenital / genetics
Humans
Infant
Intellectual Disability / genetics*
Male
Nails, Malformed / genetics*
Syndrome
Toe Phalanges / abnormalities*