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The Coffin-Lowry syndrome |
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| Authors: | Haspeslagh M. Fryns J. P. Beusen L. Van Dessel F. Vinken L. Moens E. Van Den Berghe H. |
| Affiliation: | (1) Division of Human Genetics, Department of Human Biology, A.Z. Gasthuisberg, Onderwijs en Navorsing, Herestraat 49, 3000 Leuven, Belgium;(2) Instituut Borgerstein, IJzerenveld 147, 2500 St. Katelijne-Waver, Belgium;(3) Sint-Oda Instituut, Breugelweg 200, 3583 Overpelt, Belgium;(4) Algemeen Kinderziekenhuis Antwerpen, Albert Grisarstraat 13, 2018 Antwerpen, Belgium |
| Abstract: | Two adult, mentally retarded males with the typical features of the Coffin-Lowry syndrome are reported. Further family investigation led to the same diagnosis in a 2.5-year-old male cousin, and to the identification of five female carriers, with variable clinical expression of this X-linked inherited mental retardation syndrome. |
| Keywords: | Coffin-Lowry syndrome X-linked mental retardation Dysplasia syndrome |
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