Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Stéphanie Lionnais"'
Autor:
Paul Sagot, Christine Durand, Laurence Faivre, Christel Thauvin-Robinet, Nicole Laurent, Stéphanie Lionnais, Thierry Rousseau
Publikováno v:
Prenatal Diagnosis. 22:692-696
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) i
Autor:
Christel Thauvin-Robinet, Stéphanie Lionnais, Frédéric Huet, Thierry Rousseau, Paul Sagot, Philippe Khau Van Kien, Laurence Faivre, Patrick Callier, Catherine Turleau, Nicole Laurent, Damien Sanlaville, Veronica Cusin, Francine Mugneret, Philippe Gosset
Publikováno v:
Prenatal diagnosis. 24(5)
Overgrowth is rarely associated with chromosomal imbalances. Here, we report on a male foetus presenting with overgrowth and additional material on the short arm of one of the chromosome 15 in 12% of lymphocytes and 50% of amniotic cells. Parents' ka
Autor:
Pierre, Bétrémieux, Stéphanie, Lionnais, Alain, Beuchée, Patrick, Pladys, Gwénaelle, Le Bouar, Laurent, Pasquier, Laurence, Loeuillet-Olivo, Olivier, Azzis, Joelle, Milon, Eric, Wodey, Benjamin, Frémond, Sylvie, Odent, Patrice, Poulain
Publikováno v:
Prenatal diagnosis. 22(11)
To assess the prognosis of prenatally diagnosed congenital diaphragmatic hernia (CDH) during the years 1995-2000 in order to improve prenatal counselling.Retrospective study of all 31 cases of women with prenatally diagnosed CDH.Nine pregnancies (29%