Schinzel-Giedion syndrome with severe deafness and neurodegenerative process.
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.
Alembik
Y
Y
Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.
Christmann
D
D
de Saint Martin
A
A
Eliot
M
M
Dollfus
H
H
Pauly
F
F
Stoll
C
C
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*