Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

We report on two patients with an unusual combination of achondroplasia and surgically treated sagittal synostosis and scaphocephaly. The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in both patients. Molecular genetic testing of FGFR1...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2015-03, Vol.167A (3), p.646-652
Main Authors: Accogli, Andrea, Pacetti, Mattia, Fiaschi, Pietro, Pavanello, Marco, Piatelli, Gianluca, Nuzzi, Daniele, Baldi, Maurizia, Tassano, Elisa, Severino, Maria Savina, Allegri, Anna, Capra, Valeria
Format: Article
Language:English
Subjects:
achondroplasia
Achondroplasia - complications
Achondroplasia - diagnosis
Achondroplasia - genetics
Child, Preschool
Comparative Genomic Hybridization
Craniosynostoses - complications
Craniosynostoses - diagnosis
Craniosynostoses - genetics
DNA Mutational Analysis
Facies
FGFR1 gene
FGFR2 gene
FGFR3 gene and TWIST1 gene
Humans
Imaging, Three-Dimensional
Magnetic Resonance Imaging
Male
Mutation
Phenotype
Receptor, Fibroblast Growth Factor, Type 3 - genetics
sagittal craniosynostosis
Tomography, X-Ray Computed
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Summary:We report on two patients with an unusual combination of achondroplasia and surgically treated sagittal synostosis and scaphocephaly. The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in both patients. Molecular genetic testing of FGFR1, FGFR2, FGFR3 and TWIST1 genes failed to detect any additional mutations. There are several reports of achondroplasia with associated craniosynostosis, but no other cases of scaphocephaly in children with achondroplasia have been described. Recently it has been demonstrated that FGFR3 mutations affect not only endochondral ossification but also membranous ossification, providing new explanations for the craniofacial hallmarks in achondroplasia. Our report suggests that the association of isolated scaphocephaly and other craniosynostoses with achondroplasia may be under recognized. © 2015 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36933