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Schinzel-Giedion syndrome with severe deafness and neurodegenerative process.
- 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.
- Subjects :
- Brain abnormalities
Brain pathology
Child, Preschool
Cochlea abnormalities
Deafness diagnosis
Disease Progression
Ear Ossicles abnormalities
Humans
Magnetic Resonance Imaging
Male
Neurodegenerative Diseases pathology
Abnormalities, Multiple diagnosis
Deafness complications
Neurodegenerative Diseases physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 0003-3995
- Volume :
- 42
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Annales de genetique
- Publication Type :
- Academic Journal
- Accession number :
- 10674163