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
Citation
Y. Alembik et al., Schinzel-Giedion syndrome with severe deafness and neurodegenerative process, ANN GENET, 42(4), 1999, pp. 225-230
Citations number
17
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
42
Issue
4
Year of publication
1999
Pages
225 - 230
Database
ISI
SICI code
0003-3995(1999)42:4<225:SSWSDA>2.0.ZU;2-A
Abstract
A case of Schinzel-Giedion syndrome with a follow-up of two and a half year s is reported. In addition to the classical features of the syndrome, the p atient had severe hearing loss with ossicular and cochlear malformations, a lacrymia, and progressive neurodegenerative disease.