American Journal of Medical Genetics Part A · 2011 · 18 citations · 3 references
MedicineNeurosurgerySurgeryCraniofacial GeneticsCraniofacial SurgeryCongenital Cranial AnomaliesCongenital Craniofacial AnomaliesCranial SuturesCraniofacial AnomaliesCraniosynostosis GeneticsCraniosynostosis SurgeryCraniosynostosis ImagingDevelopmental CraniosynostosisFgfr3 Mutation SpectrumMultiple Suture CraniosynostosisMutationSutural PathologySyndromic Craniofacial AnomaliesSyndromic Craniofacial Disorders
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.
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Craniosynostosis: Diagnosis, Evaluation, and Management
Mark D. Krieger · Neurosurgery · 2001 · 125 citations