Genetics of craniofacial malformations.

Abnormalities, Multiple Craniosynostoses / genetics Humans Pierre Robin Syndrome / diagnosis
Craniofacial malformation syndrome Craniosynostosis Genetic counselling Goldenhar syndrome Molecular testing Oculo-auriculo-vertebral spectrum Pierre Robin sequence Treacher Collins syndrome

Journal

Seminars in fetal & neonatal medicine
ISSN: 1878-0946
Titre abrégé: Semin Fetal Neonatal Med
Pays: Netherlands
ID NLM: 101240003

Informations de publication

Date de publication:
12 2021
Historique:
pubmed: 26 9 2021
medline: 18 3 2022
entrez: 25 9 2021
Statut: ppublish

Résumé

The field of craniofacial malformations is comprehensive and does not allow to discuss all craniofacial malformations which have been described as single entities. Many of the syndromes with craniofacial malformations are ultrarare. In this review we have chosen craniofacial malformation syndromes which are of relevance for the pediatrician, especially neonatologist: different types of craniosynostoses, oculo-auriculo-vertebral spectrum, Pierre Robin sequence and Treacher Collins syndrome. These syndromes will be described in detail. Diagnostic and therapeutic options will be discussed.

Identifiants

DOI: 10.1016/j.siny.2021.101290 PMID: 34561177
pubmed: 34561177
pii: S1744-165X(21)00098-6
doi: 10.1016/j.siny.2021.101290
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

101290

Informations de copyright

Copyright © 2021. Published by Elsevier Ltd.

Auteurs

Ariane Schmetz (A)

Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany.

Jeanne Amiel (J)

Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, AP-HP, Paris, France.

Dagmar Wieczorek (D)

Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany. Electronic address: dagmar.wieczorek@hhu.de.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations multiples › Genetics of craniofacial malformations.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations de l'appareil locomoteur › Synostose › Craniosynostoses › Genetics of craniofacial malformations.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetics of craniofacial malformations.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système stomatognathique › Malformations maxillofaciales › Malformations de la mâchoire › Syndrome de Pierre Robin › Genetics of craniofacial malformations.