| Literature DB >> 24448525 |
Gaby D Doumit1, Joseph Sidaoui, Eileen Meisler, Frank A Papay.
Abstract
Muenke syndrome caused by point mutation (C749G) in the FGFR3 gene affects 1 in 30,000 newborns and accounts for 25% to 30% of genetic causes of craniosynostosis. Anomalies in patients with Muenke syndrome include craniosynostosis, hypertelorism, sensorineural hearing loss, and developmental delay, among others. Most craniosynostoses in patients with Muenke syndrome involve bicoronal suture fusion. This article reports, for the first time, the existence of squamosal craniosynostosis in patients with Muenke syndrome.Entities:
Mesh:
Year: 2014 PMID: 24448525 DOI: 10.1097/SCS.0000000000000394
Source DB: PubMed Journal: J Craniofac Surg ISSN: 1049-2275 Impact factor: 1.046