Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

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.     

Prenatal diagnosis of Juberg–Hayward syndrome

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.     

Zur Biotransformation des 1-Äthinylcyclohexylallophanats-(1)

The Science of Nature -     

Haithabu — Entdeckung neuer Funde durch hochauflösende kleinseismische Messungen

A high-precision seismic reflection method has been developed for investigating archeological objects which are hidden in a mud-layer of the Haddebyer Noor, a lake in front of the old Viking settlement Haithabu near Schleswig. Wooden and metallic objects larger than about 30 cm could be detected and mapped. Some of the mapped objects have been rescued by diving operations. Others, like wooden harbour constructions of unexpectedly large dimensions, and a large (second) shipwrack were left conserved in the mud. All finds provide a new picture of this old Viking settlement showing that its inhabitants had a far higher stage of development than hitherto suspected.