TY - JOUR
T1 - Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
AU - Accogli, Andrea
AU - Pacetti, Mattia
AU - Fiaschi, Pietro
AU - Pavanello, Marco
AU - Piatelli, Gianluca
AU - Nuzzi, Daniele
AU - Baldi, Maurizia
AU - Tassano, Elisa
AU - Severino, Maria Savina
AU - Allegri, Anna
AU - Capra, Valeria
PY - 2015/3/1
Y1 - 2015/3/1
N2 - 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.
AB - 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.
KW - Achondroplasia
KW - FGFR1 gene
KW - FGFR2 gene
KW - FGFR3 gene and TWIST1 gene
KW - Sagittal craniosynostosis
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U2 - 10.1002/ajmg.a.36933
DO - 10.1002/ajmg.a.36933
M3 - Article
C2 - 25691418
AN - SCOPUS:84923036997
VL - 167
SP - 646
EP - 652
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -