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