Christ-Siemens-Touraine syndrome. Investigations on two large Brazilian kindreds with a new estimate of the manifestation rate among carriers

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 mal...

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Bibliographic Details
Published in:Human genetics 1981, Vol.57 (4), p.428-431
Main Authors: Pinheiro, M, Ideriha, M T, Chautard-Freire-Maia, E A, Freire-Maia, N, Primo-Parmo, S L
Format: Article
Language:English
Subjects:
Adult
Brazil
Child
Ectodermal Dysplasia - genetics
Female
Genetic Carrier Screening
Humans
Male
Pedigree
Phenotype
Sex Factors
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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 plus or minus 0.04 of all the cases.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00281698