E Reinhart1, S Eulert, J Bill, K Würzler, L Phan The, J Reuther. 1. Universitätsklinik für Mund-, Kiefer- und Gesichtschirurgie, Universität Würzburg, Pleicherwall 2, 97070, Würzburg. reinhart@mail.uni-wuerzburg.de
Abstract
BACKGROUND: The FGFR3-associated coronal synostosis syndrome (Muenke craniosynostosis) is caused by a point mutation (C749G) on the FGFR3 gene resulting in a Pro250Arg substitution. METHODS: To characterize this malformation, the neuro- and viscerocranium were analyzed by axial CT scans of the skull and cephalometric radiographs of up to 13 affected children before and in part after fronto-orbital advancement. RESULTS: Preoperative analysis of the intracranial volume of four patients showed a mean decrease of 3.6%, indicating a compensatory growth pattern of the skull in cases of coronal synostosis. The typical brachycephaly could be verified by the significant shortening of the skull length of 13.2% on average and by the significant reduction of the anterior cranial base length of maximal 5.9% on average. The anterior part of the skull was characterized by a significant mean increase of the intercoronal distance of 8.6%, which indicates a compensatory transversal growth in this malformation. The widened bilateral interorbital and anterior interorbital distances were increased by 7.3 or 9.0%, respectively, confirming a hypertelorism typical for this syndrome. The "frontal bossing" frequently found in brachycephaly was characterized by the preoperatively increased sagittal extension of the forehead (about 112.9% above the norm) and by the increased height of the frontal prominence (about 47.8% above the norm). Following surgery, both variables defining the morphology of the forehead were reduced and appeared to be constant throughout the follow-up. Hypoplasia of the midface described by Muenke et al. (1997) was confirmed in the present study only by the significant reduction of the sagittal length of the maxillary base, which was decreased by 6.8%. CONCLUSION: In accordance with the current literature, the skull configuration described for Muenke craniosynostosis shows similarities with the Saethre-Chotzen syndrome.
BACKGROUND: The FGFR3-associated coronal synostosis syndrome (Muenke craniosynostosis) is caused by a point mutation (C749G) on the FGFR3 gene resulting in a Pro250Arg substitution. METHODS: To characterize this malformation, the neuro- and viscerocranium were analyzed by axial CT scans of the skull and cephalometric radiographs of up to 13 affected children before and in part after fronto-orbital advancement. RESULTS: Preoperative analysis of the intracranial volume of four patients showed a mean decrease of 3.6%, indicating a compensatory growth pattern of the skull in cases of coronal synostosis. The typical brachycephaly could be verified by the significant shortening of the skull length of 13.2% on average and by the significant reduction of the anterior cranial base length of maximal 5.9% on average. The anterior part of the skull was characterized by a significant mean increase of the intercoronal distance of 8.6%, which indicates a compensatory transversal growth in this malformation. The widened bilateral interorbital and anterior interorbital distances were increased by 7.3 or 9.0%, respectively, confirming a hypertelorism typical for this syndrome. The "frontal bossing" frequently found in brachycephaly was characterized by the preoperatively increased sagittal extension of the forehead (about 112.9% above the norm) and by the increased height of the frontal prominence (about 47.8% above the norm). Following surgery, both variables defining the morphology of the forehead were reduced and appeared to be constant throughout the follow-up. Hypoplasia of the midface described by Muenke et al. (1997) was confirmed in the present study only by the significant reduction of the sagittal length of the maxillary base, which was decreased by 6.8%. CONCLUSION: In accordance with the current literature, the skull configuration described for Muenke craniosynostosis shows similarities with the Saethre-Chotzen syndrome.
Authors: M Muenke; K W Gripp; D M McDonald-McGinn; K Gaudenz; L A Whitaker; S P Bartlett; R I Markowitz; N H Robin; N Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; G Hollway; L C Adès; E A Haan; J C Mulley; M M Cohen; G A Bellus; C A Francomano; D M Moloney; S A Wall; A O Wilkie Journal: Am J Hum Genet Date: 1997-03 Impact factor: 11.025
Authors: D M Moloney; S A Wall; G J Ashworth; M Oldridge; I A Glass; C A Francomano; M Muenke; A O Wilkie Journal: Lancet Date: 1997-04-12 Impact factor: 79.321
Authors: Arianne Lewyllie; Maria Cadenas De Llano-Pérula; Anna Verdonck; Guy Willems Journal: Dentomaxillofac Radiol Date: 2017-12-18 Impact factor: 2.419