Current Approaches in the Development of Molecular and Pharmacological Therapies in Craniosynostosis Utilizing Animal Models.

Cranial suture Craniosynostosis FGFR2 Molecular therapy Tyrosine kinase inhibitors

Journal

Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192

Informations de publication

Date de publication:
Feb 2019
Historique:
entrez: 13 4 2019
pubmed: 13 4 2019
medline: 13 4 2019
Statut: ppublish

Résumé

The development of the craniofacial skeleton is a spatial and temporal process where cranial sutures play a role in the regulation of morphogenesis and growth. Disruption of these cellular and molecular interactions may lead to craniosynostosis, the premature obliteration of one or more cranial sutures, yielding skull growth restriction and malformation perpendicular to the affected suture. Facial deformity and various functional CNS anomalies are other frequent complications. Cranial vault expansion and reconstructive surgery remain the mainstay of treatment but pose an elevated risk of morbidity for the infant. While the etiology of nonsyndromic craniosynostosis remains to be deciphered, gain-of-function mutations in

Identifiants

pubmed: 30976284
doi: 10.1159/000493535
pii: msy-0010-0115
pmc: PMC6422115
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

115-123

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Auteurs

Martin Rachwalski (M)

Imagine Institute of Genetic Diseases, INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Departments of Malades, Paris, France.
Pediatric Neurosurgery, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
Maxillofacial and Plastic Surgery, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
National Reference Center for Craniofacial Anomalies, Hôpital Universitaire Necker-Enfants Malades, Paris, France.

Roman H Khonsari (RH)

Imagine Institute of Genetic Diseases, INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Departments of Malades, Paris, France.
Maxillofacial and Plastic Surgery, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
National Reference Center for Craniofacial Anomalies, Hôpital Universitaire Necker-Enfants Malades, Paris, France.

Giovanna Paternoster (G)

Pediatric Neurosurgery, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
National Reference Center for Craniofacial Anomalies, Hôpital Universitaire Necker-Enfants Malades, Paris, France.

Classifications MeSH