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Meckel-Gruber syndrome: Prenatal diagnosis at 10 menstrual weeks using embryoscopy |
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| Authors: | Yves Dumez Marc Dommergues Marie-Claire Gubler Victor Bunduki Francoise Narcy Martine Lemerrer Laurent Mandelbrot Richard Berkowitz |
| Affiliation: | 1. Maternité Port Royal, 123 Boulevard Port Royal 75014 Paris, France;2. INSERM Unité 192, Hǒpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France;3. Laboratoire d'Anatomie Pathologique, Hǒpital Cochin, 47 rue du Faubourg St Jaques, 75014 Paris, France;4. Service de Génétique Clinique, Hǒpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France;5. Department of Obstetrics and Gynecology, Mount Sinai Hospital, 1 Gustave Levi Place, New York, NY 10029, U.S.A. |
| Abstract: | A case of Meckel—Gruber syndrome was diagnosed by embryoscopy at 10 menstrual weeks, allowing for early termination of pregnancy. Post-mortem examination confirmed the presence of polydactyly and bilateral cystic lesions of the mesonephros and metanephros. Both the forming nephrons and the collecting ducts were involved in the formation of renal cysts. |
| Keywords: | Meckel—Gruber syndrome |