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Prenatal diagnosis and confirmation of Infantile Refsum's disease

โœ Scribed by B. T. Poll-The; J. M. Saudubray; F. Rocchiccioli; J. Scotto; F. Roels; J. Boue; H. Ogier; Y. Dumez; R. J. A. Wanders; R. B. H. Schutgens; A. W. Schram; J. M. Tager


Publisher
Springer
Year
1987
Tongue
English
Weight
277 KB
Volume
10
Category
Article
ISSN
0141-8955

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Prenatal diagnosis of fatal infantile ol
โœ Avick G. Mitra; Ann R. Salvino; J. Edward Spence ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 176 KB

We report the first case of prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome, OMIM 225753. Ultrasound findings noted at 28 weeks' gestation included polyhydramnios, a small stomach bubble, a small but morphologically normal cerebellum, dilatation of the fourth ventricle