Summary
Two large Brazilian families with 34 males and 32 females presenting Christ-Siemens-Touraine syndrome are reported. As “unusual” features, one kindred presented two very severely affected girls, nine affected males with a normal nose, and a very heterogeneous trichodysplasia among both males and females; oligohydramnios was verified in the pregnancies of carriers from both kindreds. Carrier detection was possible in 0.73–0.04 of all the cases.
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Pinheiro, M., Ideriha, M.T., Chautard-Freire-Maia, E.A. et al. Christ-Siemens-Touraine syndrome. Investigations on two large brazilian kindreds with a new estimate of the manifestation rate among carriers. Hum Genet 57, 428–431 (1981). https://doi.org/10.1007/BF00281698
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DOI: https://doi.org/10.1007/BF00281698