دورية أكاديمية
Hydrocephalus and Chiari malformation pathophysiology in FGFR2-related faciocraniosynostosis: A review
| العنوان: | Hydrocephalus and Chiari malformation pathophysiology in FGFR2-related faciocraniosynostosis: A review |
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| المؤلفون: | Coll, G., El Ouadih, Youssef, Abed Rabbo, F., Jecko, V., Sakka, L., Di Rocco, F. |
| المساهمون: | Service de Neurochirurgie CHU Clermont-Ferrand, CHU Gabriel Montpied Clermont-Ferrand, CHU Clermont-Ferrand-CHU Clermont-Ferrand, Institut Pascal (IP), SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne 2017-2020 (UCA 2017-2020 )-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'anatomie, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP) |
| المصدر: | ISSN: 0028-3770. |
| بيانات النشر: | HAL CCSD Elsevier Masson |
| سنة النشر: | 2019 |
| المجموعة: | HAL Clermont Auvergne (Université Blaise Pascal Clermont-Ferrand / Université d'Auvergne) |
| مصطلحات موضوعية: | Apert, Chiari, Complex craniosynostosis, Crouzon, Hydrocephalus, Pfeiffer, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology |
| الوصف: | International audience ; Background: Patients with syndromic faciocraniosynostosis due to the mutation of the fibroblast growth factor receptor (FGFR) 2 gene present premature fusion of the coronal sutures and of the cranial base synchondrosis. Cerebrospinal fluid (CSF) circulation disorders and cerebellar tonsil prolapse are frequent findings in faciocraniosynostosis. Objective: We reviewed the medical literature on the pathophysiological mechanisms of CSF disorders such as hydrocephalus and of cerebellar tonsil prolapse in FGFR2-related faciocraniosynostosis. Discussion: Different pathophysiological theories have been proposed, but none elucidated all the symptoms present in Apert, Crouzon and Pfeiffer syndromes. The first theory that addressed CSF circulation disruption was the constrictive theory (cephalocranial disproportion): cerebellum and brain stem are constricted by the small volume of the posterior fossa. The second theory proposed venous hyperpressure due to jugular foramens stenosis. The most recent theory proposed a pressure differential between CSF in the posterior fossa and in the vertebral canal, due to foramen magnum stenosis. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | hal-02903593; https://hal.science/hal-02903593Test; https://hal.science/hal-02903593/documentTest; https://hal.science/hal-02903593/file/S0028377019302115.pdfTest; PII: S0028-3770(19)30211-5 |
| DOI: | 10.1016/j.neuchi.2019.09.001 |
| الإتاحة: | https://doi.org/10.1016/j.neuchi.2019.09.001Test https://hal.science/hal-02903593Test https://hal.science/hal-02903593/documentTest https://hal.science/hal-02903593/file/S0028377019302115.pdfTest |
| حقوق: | http://creativecommons.org/licenses/by-ncTest/ ; info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.EE665FFB |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.neuchi.2019.09.001 |
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