Genetics of craniofacial malformations

Ariane Schmetz; Jeanne Amiel; Dagmar Wieczorek

doi:10.1016/j.siny.2021.101290

Genetics of craniofacial malformations

Semin Fetal Neonatal Med. 2021 Dec;26(6):101290. doi: 10.1016/j.siny.2021.101290. Epub 2021 Sep 17.

Authors

Ariane Schmetz¹, Jeanne Amiel², Dagmar Wieczorek³

Affiliations

¹ Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany.
² Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, AP-HP, Paris, France.
³ Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany. Electronic address: dagmar.wieczorek@hhu.de.

PMID: 34561177
DOI: 10.1016/j.siny.2021.101290

Abstract

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.

Keywords: Craniofacial malformation syndrome; Craniosynostosis; Genetic counselling; Goldenhar syndrome; Molecular testing; Oculo-auriculo-vertebral spectrum; Pierre Robin sequence; Treacher Collins syndrome.

Publication types

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

MeSH terms

Abnormalities, Multiple*
Craniosynostoses* / genetics
Humans
Pierre Robin Syndrome* / diagnosis
Pierre Robin Syndrome* / genetics