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Mathilde Lefebvre, Fabienne Dufernez, Ange-Line Bruel, Marie Gonzales, Bernard Aral, Judith Saint-Onge, Nadège Gigot, Julie Desir, Caroline Daelemans, Frédérique Jossic, Sébastien Schmitt, Raphaele Mangione, Fanny Pelluard, Catherine Vincent-Delorme, Jean-Marc Labaune, Nicole Bigi, Dominique D'Olne, Anne-Lise Delezoide, Annick Toutain, Sophie Blesson, Valérie Cormier-Daire, Julien Thevenon, Salima El Chehadeh, Alice Masurel-Paulet, Nicole Joyé, Claude Vibert-Guigue, Luc Rigonnot, Thierry Rousseau, Pierre Vabres, Philippe Hervé, Antonin Lamazière, Jean-Baptiste Rivière, Laurence Faivre, Nicole Laurent, Christel Thauvin-Robinet
OBJECTIVES: Conradi-Hünermann-Happle [X-linked dominant chondrodysplasia punctata 2 (CDPX2)] syndrome is a rare X-linked dominant skeletal dysplasia usually lethal in men while affected women show wide clinical heterogeneity. Different EBP mutations have been reported. Severe female cases have rarely been reported, with only six antenatal presentations. METHODS: To better characterize the phenotype in female fetuses, we included nine antenatally diagnosed cases of women with EBP mutations...
July 2015: Prenatal Diagnosis
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