Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome |
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| Authors: | Thierry Rousseau Nicole Laurent Christel Thauvin-Robinet Stéphanie Lionnais Christine Durand Laurence Faivre Paul Sagot |
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| Institution: | 1. Clinique Gynécologique et Obstétricale, Centre Hospitalier Universitaire, Dijon, France;2. Service d'Anatomie et de Cytologie Pathologiques, Centre Hospitalier Universitaire, Dijon, France;3. Centre de Génétique, Centre Hospitalier Universitaire, Dijon, France;4. Département de Radiologie et d'Imagerie Médicale, Centre Hospitalier Universitaire, Dijon, France |
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| Abstract: | Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) in a non-consanguineous couple, with variable expression in echographic, clinical and autopsy findings. Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome. Copyright © 2002 John Wiley & Sons, Ltd. |
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| Keywords: | Fraser syndrome cryptophthalmos syndrome autosomal recessive inheritance prenatal diagnosis |
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