Variable phenotypic expression of Apert syndrome in monozygotic twins
| Autor: | E. Perdriolle-Galet, Pascale Bach-Segura, Matthieu Dap, Charline Bertholdt, Laetitia Lambert, Olivier Morel, Didier Menzies, Olivier Klein, Jean-Pierre Masutti |
|---|---|
| Přispěvatelé: | Service d'Obstétrique et de Gynécologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Département de Radiologie adultes [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Université de Lorraine (UL), Imagerie Adaptative Diagnostique et Interventionnelle (IADI), Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Foetopathologie et placentologie [CHRU Nancy], Service de Chirurgie Pédiatrique [CHRU Nancy], Service de Génétique Médicale [CHRU Nancy], BIRKER, Juliette, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL) |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
musculoskeletal diseases
Pathology medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities fetal autopsy [INFO.INFO-IM] Computer Science [cs]/Medical Imaging Case Report Apert syndrome Disease Case Reports [SDV.IB.MN]Life Sciences [q-bio]/Bioengineering/Nuclear medicine 030204 cardiovascular system & hematology congenital diaphragmatic hernia Craniosynostosis [SDV.IB.MN] Life Sciences [q-bio]/Bioengineering/Nuclear medicine 03 medical and health sciences 0302 clinical medicine monozygotic twins medicine [INFO.INFO-IM]Computer Science [cs]/Medical Imaging Diaphragmatic hernia ComputingMilieux_MISCELLANEOUS Fetus [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology business.industry fungi Congenital diaphragmatic hernia food and beverages General Medicine medicine.disease Phenotype 3. Good health craniosynostosis fetal ultrasound 030220 oncology & carcinogenesis Variable phenotypic expression business [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology |
| Zdroj: | AACE Clinical Case Reports AACE Clinical Case Reports, 2019, 7 (1), pp.54-57. ⟨10.1002/ccr3.1915⟩ Clinical Case Reports |
| ISSN: | 2376-0605 |
| DOI: | 10.1002/ccr3.1915⟩ |
| Popis: | Key Clinical Message Apert syndrome in monozygotic twins can lead to different phenotypic expression of the disease in the two fetuses. Apert syndrome can be associated with congenital left diaphragmatic hernia and cleft palate. |
| Databáze: | OpenAIRE |
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