title: Schinzel-Giedion syndrome with severe deafness and neurodegenerative process.
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.
authors.affiliation: Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.
authors.forename: Y
authors.initials: Y
authors.lastname: Alembik
authors.forename: D
authors.initials: D
authors.lastname: Christmann
authors.forename: A
authors.initials: A
authors.lastname: de Saint Martin
authors.forename: M
authors.initials: M
authors.lastname: Eliot
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
authors.forename: F
authors.initials: F
authors.lastname: Pauly
authors.forename: C
authors.initials: C
authors.lastname: Stoll
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002675:Child, Preschool; D003051:Cochlea / Q000002:abnormalities; D003638:Deafness / Q000150:complications* / Q000175:diagnosis; D018450:Disease Progression; D004429:Ear Ossicles / Q000002:abnormalities; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D019636:Neurodegenerative Diseases / Q000473:pathology / Q000503:physiopathology*