The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis.

BACKGROUND: Muenke-type craniosynostosis is defined as fibroblast growth factor receptor 3 (FGFR3)-associated coronal craniosynostosis with or without mental retardation. With complementary genetic information, more precise diagnosis and long-term functional outcome of cranial vault remodeling in affected patients can be studied, and additional distinct features of Muenke syndrome can now be investigated. This study was undertaken to assess craniofacial growth and long-term functional outcome in patients with Muenke-type craniosynostosis.
METHODS: A chart review of all FGFR3 patients at The Children's Hospital of Philadelphia who had undergone cranial vault remodeling for unicoronal or bicoronal synostosis (n = 16) was performed. Need for reoperation, midface surgery, and functional corrections were assessed. Audiology and orthodontic records were reviewed.
RESULTS: All patients underwent cranial remodeling during infancy. Repeated intracranial surgery was performed or is currently scheduled for aesthetic reasons only (n = 7). Sexual dimorphism with male preponderance in FGFR3 unicoronal synostosis was detected. Despite dental crowding amenable to palatal expansion in patients with bicoronal synostosis, significant midface hypoplasia was not observed. Sensorineural hearing loss with a distinctive pattern was present in all patients who had undergone audiology testing.
CONCLUSIONS: Patients with FGFR3-associated craniosynostosis demonstrate a sexual dimorphism, with a male preponderance for unicoronal synostosis. A secondary major intracranial procedure is required for recurrent supraorbital retrusion in at least 43 percent of patients. A secondary or tertiary extracranial forehead contouring procedure should be anticipated in nearly all patients. No patient required any midface correctional procedure. These patients demonstrate characteristic bilateral, symmetric, low- to mid-frequency sensorineural hearing loss.