Literature DB >> 24448525

Squamosal suture craniosynostosis in Muenke syndrome.

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.

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Year:  2014        PMID: 24448525     DOI: 10.1097/SCS.0000000000000394

Source DB:  PubMed          Journal:  J Craniofac Surg        ISSN: 1049-2275            Impact factor:   1.046


  1 in total

1.  Bilateral squamosal synostosis: unusual presentation of chromosome 1p12-1p13.3 deletion. Illustrative case.

Authors:  Sarut Chaisrisawadisuk; Nithiwat Vatanavicharn; Verayuth Praphanphoj; Peter J Anderson; Mark H Moore
Journal:  J Neurosurg Case Lessons       Date:  2021-01-18
  1 in total

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