Prenatal diagnosis of Juberg–Hayward syndrome |
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| Authors: | Stéphanie Couvreur-Lionnais Thierry Rousseau Nicole Laurent Christel Thauvin-Robinet Eve Senet-Lacombe Anne Lise Delezoïde Francine Mugneret Christine Durand Laurence Faivre Paul Sagot |
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| Affiliation: | 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. Service d'anatomo-pathologie, Centre Hospitalier Universitaire Robert Debré, Paris, France;5. Service de cytogénétique, Centre Hospitalier Universitaire, Dijon, France;6. Département de Radiologie et d'Imagerie Médicale, Centre Hospitalier Universitaire, Dijon, France |
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| Abstract: | Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd. |
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| Keywords: | Juberg–Hayward syndrome orocraniodigital syndrome prenatal diagnosis |
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