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Schinzel-Giedion syndrome with severe deafness and neurodegenerative process
Y Alembik1, D Christmann, A de Saint Martin
1Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.
Annales De Genetique
|February 16, 2000
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.