Squamosal Suture Craniosynostosis in Muenke Syndrome
| Autor: | Frank A. Papay, Eileen Meisler, Gaby Doumit, Joseph Sidaoui |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Pediatrics
medicine.medical_specialty Developmental Disabilities Fgfr3 gene Squamosal suture Craniosynostoses Craniosynostosis Muenke syndrome Parietal Bone Sphenoid Bone medicine Humans Hypertelorism Child Fibrous joint business.industry Infant Temporal Bone Cranial Sutures General Medicine medicine.disease Magnetic Resonance Imaging medicine.anatomical_structure Otorhinolaryngology Frontal Bone Female Surgery Sensorineural hearing loss medicine.symptom Tomography X-Ray Computed business |
| Zdroj: | Journal of Craniofacial Surgery. 25:429-431 |
| ISSN: | 1049-2275 |
| DOI: | 10.1097/scs.0000000000000394 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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