title: Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).
abstract: Although Muenke syndrome is the most common syndromic form of craniosynostosis, the frequency of oral and palatal anomalies including high-arched palate, cleft lip with or without cleft palate has not been documented in a patient series of Muenke syndrome to date. Further, to our knowledge, cleft lip and palate has not been reported yet in a patient with Muenke syndrome (a previous patient with isolated cleft palate has been reported). This study sought to evaluate the frequency of palatal anomalies in patients with Muenke syndrome through both a retrospective investigation and literature review. A total of 21 patients who met criteria for this study were included in the retrospective review. Fifteen patients (71%) had a structural anomaly of the palate. Cleft lip and palate was present in 1 patient (5%). Other palatal findings included high-arched hard palate in 14 patients (67%). Individuals with Muenke syndrome have the lowest incidence of cleft palate among the most common craniosynostosis syndromes. However, high-arched palate in Muenke syndrome is common and may warrant clinical attention, as these individuals are more susceptible to recurrent chronic otitis media with effusion, dental malocclusion, and hearing loss.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Nneamaka Barbara
authors.initials: NB
authors.lastname: Agochukwu
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Solomon
authors.forename: Emily S
authors.initials: ES
authors.lastname: Doherty
authors.forename: Maximilian
authors.initials: M
authors.lastname: Muenke
mesh_terms: D002971:Cleft Lip / Q000453:epidemiology*; D002972:Cleft Palate / Q000453:epidemiology*; D003398:Craniosynostoses / Q000453:epidemiology*; D005260:Female; D034381:Hearing Loss / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D008297:Male; D008310:Malocclusion / Q000453:epidemiology; D010034:Otitis Media with Effusion / Q000453:epidemiology; D021362:Palate, Hard / Q000002:abnormalities; D012189:Retrospective Studies; D014481:United States / Q000453:epidemiology