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A Family with Treacher Collins Syndrome Naoko Fujimura 1 1Department of Otorhinolaryngology, Shimane Medical University pp.945-950
Published Date 1985/11/20
DOI https://doi.org/10.11477/mf.1492210054
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 A family with Treacher Collins syndrome was reported. A 3-year-old boy was suspected of hard of hearing and retardation of speech development by his mother. He was diagnosed as having Treacher Collins syndrome. Seven out of 11 members through 4 generations in his family, i.e. his father, uncle, uncle's son, grandmother, her brother and grand-grand mother, were found to have this syndrome. The family demonstrated incomplete autosomal dominant transmission.


Copyright © 1985, 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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