supravalvular Aortic Stenosis. Autosomal Dominant Form of Congenital Cardiopathy

We describe a family in which two generations are affected: two brothers and one of their maternal uncles. One of their two half-sisters (same mother) is also suspected of having the same cardiopathy. This observation confirms the autosomal dominant transmission of the disease and shows its variable expressivity in the family under study

Exemple d’une coopération entre médecin-légiste , odontologiste et entomologistes : identification d’ossements humains, datation de la mort et fixation du lieu du crime

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Roberts-Sc Phocomelia Syndrome with Exencephaly

We report a 18 weeks old fetus with the typical limb reduction anomalies of SC phocomelia syndrome, associated with exencephaly and unilateral anophthalmia, a feature previously reported in only 2 cases of severe Roberts syndrome. This observation brings another argument for lumping both diseases in a unique Roberts-SC phocomelia syndrome. Diagnosis was settled by the observation of premature centromeric splitting

Partial Trisomy 20q Due to Paternal T(8;20) Translocation. Case Report and Review of the Literature

In this report we present a malformed female newborn with partial trisomy 20q who was the unbalanced product of a paternal 8p/20q translocation (46,XY,t(8;20) (p23.1;q11]

Fetal Krabbe leukodystrophy - A morphologic study of two cases

Two new cases of Krabbe disease were diagnosed prenatally in a family with two previous affected children. The activity of galactosylceramide-β-galactosidase was virtually absent in cultured amniotic cells. The prenatal diagnosis was confirmed enzymatically in cultured fibroblasts, brain, and visceral organs. Light and electron microscopy studies in both fetuses, 20 and 23 weeks of gestational age respectively, revealed the presence of typical globoid cells in the white matter of the spinal cord. Specific inclusions were also found in the brain stem and in peripheral nerves of the second fetus. A comparison with other Krabbe disease fetuses described in the literature contributes to the consensus that abnormal morphological findings can be expected in particular in the most actively myelinating areas of the nervous system. Although most of the cells containing the specific melusions are probably non-glial in nature, some of them could represent myelination glia. © 1981 Springer-Verlag.SCOPUS: ar.jinfo:eu-repo/semantics/publishe