Squamosal suture craniosynostosis in Muenke syndrome.
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.
From the Department of Plastic Surgery, Institute of Dermatology and Plastic Surgery, Cleveland Clinic, Cleveland, Ohio.
Gaby D
GD
Doumit
Joseph
J
Sidaoui
Eileen
E
Meisler
Frank A
FA
Papay
D002648:Child; D003393:Cranial Sutures / Q000002:abnormalities*; D003398:Craniosynostoses / Q000175:diagnosis* / Q000601:surgery; D002658:Developmental Disabilities / Q000175:diagnosis; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D010294:Parietal Bone / Q000002:abnormalities*; D013100:Sphenoid Bone / Q000002:abnormalities; D013701:Temporal Bone / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed / Q000379:methods