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Female Identical Twins with Refetoff Syndrome Showing Deafness Shinya Ohashi 1 1Department of Otolaryngology,Tokyo Medical College pp.689-692
Published Date 1987/9/20
DOI https://doi.org/10.11477/mf.1492210363
  • Abstract
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 The Refetoff syndrome is a rare disease due to congenital abnormality of the thyroid hormone receptor.

 The symptoms include goiter, deafness, nystagmus and retarded bone growth associated with the stippled epiplysis. Since 1967, when this syndrome was first described by Refetoff et al., only 17 cases of 7 families have been reported. This paper reports female identical 7-year-old twins with this syndrome manifesting goiter and deafness. The survey of literature revealed that only 3 cases out of 17 had hearing disturbances, so that the presented 2 cases were more typical ones.

 The combination of goiter and deafness is a well-known but the etiology has remained obscure.

 From the study on our cases, it is considered that the thyropathy and the hearing disorder are two different maniftations of abnormality of the same gene.


Copyright © 1987, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 印刷版ISSN 0386-9679 医学書院

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