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Page 1
Muenke Syndrome.
Kruszka P, Rolle M, Kahle KT, Muenke M. Kruszka P, et al. 2006 May 10 [updated 2023 Mar 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 May 10 [updated 2023 Mar 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301588 Free Books & Documents. Review.
Of note, some individuals who have the p.Pro250Arg pathogenic variant may have no signs of Muenke syndrome on physical or radiographic examination. DIAGNOSIS/TESTING: The diagnosis of Muenke syndrome is established by the identification of the FGFR3 pa …
Of note, some individuals who have the p.Pro250Arg pathogenic variant may have no signs of Muenke syndrome on physical or radi …
Assessing the midface in Muenke syndrome: A cephalometric analysis and review of the literature.
Samra F, Bauder AR, Swanson JW, Whitaker LA, Bartlett SP, Taylor JA. Samra F, et al. J Plast Reconstr Aesthet Surg. 2016 Sep;69(9):1285-90. doi: 10.1016/j.bjps.2016.06.017. Epub 2016 Jul 16. J Plast Reconstr Aesthet Surg. 2016. PMID: 27449747 Review.
METHODS: We retrospectively reviewed all patients with a genetic and clinical diagnosis of Muenke syndrome from 1990 to 2014. Review of clinical records and photographs included skeletal Angle Class, dental occlusion, and incidence of orthognathic intervention. ...O …
METHODS: We retrospectively reviewed all patients with a genetic and clinical diagnosis of Muenke syndrome from 1990 to 2014. …
Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
Choi TM, Kramer GJC, Goos JAC, Mathijssen IMJ, Wolvius EB, Ongkosuwito EM. Choi TM, et al. Eur J Orthod. 2022 May 24;44(3):287-293. doi: 10.1093/ejo/cjab056. Eur J Orthod. 2022. PMID: 34424951 Free PMC article.
OBJECTIVES: To determine whether dental maturity (dental development) was delayed in patients with Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis, compared with a Dutch control group without syndromes. ...CONCLUSIONS: Our results indic …
OBJECTIVES: To determine whether dental maturity (dental development) was delayed in patients with Muenke syndrome, Saethre-Ch …
Muenke syndrome.
Sabatino G, Di Rocco F, Zampino G, Tamburrini G, Caldarelli M, Di Rocco C. Sabatino G, et al. Childs Nerv Syst. 2004 May;20(5):297-301. doi: 10.1007/s00381-003-0906-y. Epub 2004 Feb 10. Childs Nerv Syst. 2004. PMID: 14963686
BACKGROUND: Muenke syndrome is a genetically determined craniosynostosis that involves one or both coronal sutures. ...ILLUSTRATIVE CASES: We report the cases of two sisters who presented with Muenke syndrome and whose affected mother did not have any …
BACKGROUND: Muenke syndrome is a genetically determined craniosynostosis that involves one or both coronal sutures. ...ILLUSTR …
Muenke syndrome: Medical and surgical comorbidities and long-term management.
Murali CN, McDonald-McGinn DM, Wenger TL, McDougall C, Stroup BM, Sheppard SE, Taylor J, Bartlett SP, Bhoj EJ, Zackai EH, Santani A. Murali CN, et al. Am J Med Genet A. 2019 Aug;179(8):1442-1450. doi: 10.1002/ajmg.a.61199. Epub 2019 May 20. Am J Med Genet A. 2019. PMID: 31111620 Free PMC article.
Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3. ...We additionally analyzed the medical resource utilization of probands with Muenke syndrome. To our knowledge,
Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R varia
Craniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
Choi TM, Lijten OW, Mathijssen IMJ, Wolvius EB, Ongkosuwito EM. Choi TM, et al. Clin Oral Investig. 2022 Mar;26(3):2927-2936. doi: 10.1007/s00784-021-04275-y. Epub 2021 Dec 14. Clin Oral Investig. 2022. PMID: 34904178 Free PMC article.
OBJECTIVES: To determine whether the midface of patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis is hypoplastic compared to skeletal facial proportions of a Dutch control group. ...CONCLUSIONS: In this study, we showed that …
OBJECTIVES: To determine whether the midface of patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related cran …
[Muenke syndrome].
Ortiz Movilla R, Ros Pérez P, Muro Brussi M, Miralles Molina M. Ortiz Movilla R, et al. An Pediatr (Barc). 2017 Jul;87(1):59-60. doi: 10.1016/j.anpedi.2016.02.005. Epub 2016 Apr 19. An Pediatr (Barc). 2017. PMID: 27106663 Free article. Spanish. No abstract available.
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).
Agochukwu NB, Solomon BD, Doherty ES, Muenke M. Agochukwu NB, et al. J Craniofac Surg. 2012 May;23(3):664-8. doi: 10.1097/SCS.0b013e31824db8bb. J Craniofac Surg. 2012. PMID: 22565872 Free PMC article. Review.
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
Although Muenke syndrome is the most common syndromic form of craniosynostosis, the frequency of oral and palatal anomalies in …
Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol.
den Ottelander BK, de Goederen R, van Veelen MC, van de Beeten SDC, Lequin MH, Dremmen MHG, Loudon SE, Telleman MAJ, de Gier HHW, Wolvius EB, Tjoa STH, Versnel SL, Joosten KFM, Mathijssen IMJ. den Ottelander BK, et al. J Neurosurg Pediatr. 2019 Jul 19;24(4):415-422. doi: 10.3171/2019.5.PEDS1969. J Neurosurg Pediatr. 2019. PMID: 31323628
OBJECTIVE: The authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure. METHODS: This was a prospective observational cohort study of Muenke syndrome patients who underwent …
OBJECTIVE: The authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a singl …
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.
Agochukwu NB, Solomon BD, Gropman AL, Muenke M. Agochukwu NB, et al. Pediatr Neurol. 2012 Nov;47(5):355-61. doi: 10.1016/j.pediatrneurol.2012.07.004. Pediatr Neurol. 2012. PMID: 23044018 Free PMC article. Review.
We present seven patients with Muenke syndrome and seizures. A review of 789 published cases of Muenke syndrome, with a focus on epilepsy and intracranial anomalies in Muenke syndrome, revealed epilepsy in six patients, with intracranial …
We present seven patients with Muenke syndrome and seizures. A review of 789 published cases of Muenke syndrome, …
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