Schinzel-Giedion syndrome with severe deafness and neurodegenerative process

Y Alembik; D Christmann; A de Saint Martin; M Eliot; H Dollfus; F Pauly; C Stoll

Schinzel-Giedion syndrome with severe deafness and neurodegenerative process

Ann Genet. 1999;42(4):225-30.

Authors

Y Alembik¹, D Christmann, A de Saint Martin, M Eliot, H Dollfus, F Pauly, C Stoll

Affiliation

¹ Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.

PMID: 10674163

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple* / diagnosis
Brain / abnormalities
Brain / pathology
Child, Preschool
Cochlea / abnormalities
Deafness / complications*
Deafness / diagnosis
Disease Progression
Ear Ossicles / abnormalities
Humans
Magnetic Resonance Imaging
Male
Neurodegenerative Diseases / pathology
Neurodegenerative Diseases / physiopathology*