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Review
. 2019 Feb;10(1-2):6-23.
doi: 10.1159/000492266. Epub 2018 Aug 15.

Genetic Causes of Craniosynostosis: An Update

Jacqueline A C Goos  1 , Irene M J Mathijssen  1
Affiliations
Review

Genetic Causes of Craniosynostosis: An Update

Jacqueline A C Goos et al. Mol Syndromol. 2019 Feb.

Abstract

In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57 human genes were reported for which there had been evidence that mutations were causally related to craniosynostosis. Facilitated by rapid technological developments, many others have been identified since then. Reviewing the literature, we characterize the most common craniosynostosis syndromes followed by a description of the novel causes that were identified between January 2015 and December 2017.

Keywords: Calvarial suture development; Chromosomal rearrangement; Common craniosynostosis syndromes; Single-gene causes.

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Figures

Fig. 1
Fig. 1
Craniosynostosis. From left to right: normal calvarial sutures, sagittal suture synostosis leading to a scaphocephalic head shape, metopic suture synostosis leading to trigonocephaly, left coronal suture synostosis leading to left-sided plagiocephaly, bicoronal suture synostosis leading to a brachycephalic head shape, and right lambdoid suture synostosis leading to right-sided occipital plagiocephaly.
See this image and copyright information in PMC

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