Christ-Siemens-Touraine syndrom—a clinical and genetic analysis of a large Brazilian kindred: III. Carrier detection



Detection of carriers of the Christ-Siemens-Touraine syndrome on the basis of data of physical examination has been possible in about 60–70% of the cases reported in 44 papers, including a large Brazilian kindred studied by the authors. Partial data, however, showed detection values ranging from 42% to 84%.