title: Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
abstract: 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.
authors.affiliation: Universit, à, di Genova, Genova, Italy; Istituto Giannina Gaslini, Genova, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Accogli
authors.forename: Mattia
authors.initials: M
authors.lastname: Pacetti
authors.forename: Pietro
authors.initials: P
authors.lastname: Fiaschi
authors.forename: Marco
authors.initials: M
authors.lastname: Pavanello
authors.forename: Gianluca
authors.initials: G
authors.lastname: Piatelli
authors.forename: Daniele
authors.initials: D
authors.lastname: Nuzzi
authors.forename: Maurizia
authors.initials: M
authors.lastname: Baldi
authors.forename: Elisa
authors.initials: E
authors.lastname: Tassano
authors.forename: Maria Savina
authors.initials: MS
authors.lastname: Severino
authors.forename: Anna
authors.initials: A
authors.lastname: Allegri
authors.forename: Valeria
authors.initials: V
authors.lastname: Capra
mesh_terms: D000130:Achondroplasia / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D003398:Craniosynostoses / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D019066:Facies; D006801:Humans; D021621:Imaging, Three-Dimensional; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010641:Phenotype; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D051498:Receptor, Fibroblast Growth Factor, Type 3
keywords: FGFR1 gene; FGFR2 gene; FGFR3 gene and TWIST1 gene; achondroplasia; sagittal craniosynostosis