Quantification of Facial Skeletal Shape Variation in Fibroblast Growth Factor Receptor-Related Craniosynostosis Syndromes

Heuzé, Yann; Martínez-Abadías, Neus; Stella, Jennifer M.; Arnaud, Eric; Collet, Corinne; Fructuoso, Gemma García; Alamar, Mariana; Lo, Lun-Jou; Boyadjiev, Simeon A.; Di Rocco, Federico; Richtsmeier, Joan T.

doi:10.1002/bdra.23228

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Quantification of Facial Skeletal Shape Variation in Fibroblast Growth Factor Receptor-Related Craniosynostosis Syndromes

Published Date:

Feb 27 2014

Publisher's site:

http://dx.doi.org/10.1002/bdra.23228 New Site Icon

Source:

Birth Defects Res A Clin Mol Teratol. 2014; 100(4):250-259.

[PDF-511.90 KB]

Details:

Personal Authors:

Heuzé, Yann ; Martínez-Abadías, Neus ; Stella, Jennifer M. ; Arnaud, Eric ; Collet, Corinne ; ... More ▼

Keywords:

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Pubmed ID:

24578066

Pubmed Central ID:

PMC4029055

Description:

Background

fibroblast growth factor receptor (FGFR) -related craniosynostosis syndromes are caused by many different mutations within FGFR-1, 2, 3, and certain FGFR mutations are associated with more than one clinical syndrome. These syndromes share coronal craniosynostosis and characteristic facial skeletal features, although Apert syndrome (AS) is characterized by a more dysmorphic facial skeleton relative to Crouzon (CS), Muenke (MS), or Pfeiffer syndromes.

Methods

Here we perform a detailed three-dimensional evaluation of facial skeletal shape in a retrospective sample of cases clinically and/or genetically diagnosed as AS, CS, MS, and Pfeiffer syndrome to quantify variation in facial dysmorphology, precisely identify specific facial features pertaining to these four syndromes, and further elucidate what knowledge of the causative FGFR mutation brings to our understanding of these syndromes.

Results

Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with severity of facial dysmorphology diminishing from Apert FGFR2S252W to Apert FGFR2P253R to MS. We show that AS facial shape variation is increased relative to CS, although CS has been shown to be caused by numerous distinct mutations within FGFRs and reduced dosage in ERF.

Conclusion

Our quantitative analysis of facial phenotypes demonstrate subtle variation within and among craniosynostosis syndromes that might, with further research, provide information about the impact of the mutation on facial skeletal and nonskeletal development. We suggest that precise studies of the phenotypic consequences of genetic mutations at many levels of analysis should accompany next-generation genetic research and that these approaches should proceed cooperatively.

Document Type:

Journal Article

Collection(s):

CDC Public Access

Funding:

Main Document Checksum:

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Supporting Files:

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