Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
Clinical Case Reports2014Vol. 2(2), pp. 25–32
Citations Over TimeTop 25% of 2014 papers
Livia Marcato, Licia Turolla, Eva Pompilii, Céline Dupont, Nicolas Gruchy, Simona De Toffol, Gabriella Bracalente, Séverine Bacrot, Enzo Troilo, Anne Claude Tabet, Sabrina Rossi, Anne Lise Delezoïde, Demetrio Baldo, Nathalie Leporrier, Federico Maggi, Arnaud Molin, G. Pilu, Giuseppe Simoni, François Vialard, Francesca Romana Grati
Abstract
Copy losses/gains of the Williams-Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first reciprocal duplication prenatal cases are described with a review of the literature.
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