title: Achondroplasia with synostosis of multiple sutures.
abstract: We report for the second time on a case of achondroplasia with synostosis of multiple sutures. The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified. Imaging studies disclosed complex craniosynostosis and neurosurgical intervention was carried out, particularly for posterior plagiocephaly.
authors: Department of Neurosurgery, Agia Sofia Children's Hospital, Athens, Greece. georg1geo@yahoo.com
authors: George
authors: G
authors: Georgoulis
authors: George
authors: G
authors: Alexiou
authors: Neofytos
authors: N
authors: Prodromou
mesh_terms: D000130:Achondroplasia / Q000150:complications* / Q000235:genetics; D003398:Craniosynostoses / Q000150:complications* / Q000601:surgery; D005260:Female; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D047928:Premature Birth; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3