Back to Search Start Over

Schinzel-Giedion syndrome with severe deafness and neurodegenerative process.

Authors :
Alembik Y
Christmann D
de Saint Martin A
Eliot M
Dollfus H
Pauly F
Stoll C
Source :
Annales de genetique [Ann Genet] 1999; Vol. 42 (4), pp. 225-30.
Publication Year :
1999

Abstract

A case of Schinzel-Giedion syndrome with a follow-up of two and a half years is reported. In addition to the classical features of the syndrome, the patient had severe hearing loss with ossicular and cochlear malformations, alacrymia, and progressive neurodegenerative disease.

Details

Language :
English
ISSN :
0003-3995
Volume :
42
Issue :
4
Database :
MEDLINE
Journal :
Annales de genetique
Publication Type :
Academic Journal
Accession number :
10674163