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Muenke Syndrome
Brian L. Shaffer, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Syndrome of coronal craniosynostosis
            • Definitions

              • Craniosynostosis with considerable phenotypic variability, often bilateral coronal synostosis, midfacial retrusion, hearing loss, and developmental delay
                • Midface retrusion: Posterior positioning and vertical facial shortening below orbits and adjacent to nose leading to prognathism

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Consider

                              Selected References

                              1. den Ottelander BK et al: Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol. J Neurosurg Pediatr. 1-8, 2019
                              2. Murali CN et al: Muenke syndrome: medical and surgical comorbidities and long-term management. Am J Med Genet A. 179(8):1442-50, 2019
                              3. Kruszka P et al: Muenke syndrome. In: GeneReviews. Created May 10, 2006. Updated November 10, 2016. https://www.ncbi.nlm.nih.gov/books/NBK1415/
                              4. Kruszka P et al: Muenke syndrome: an international multicenter natural history study. Am J Med Genet A. 170A(4):918-29, 2016
                              5. Samra F et al: Assessing the midface in Muenke syndrome: a cephalometric analysis and review of the literature. J Plast Reconstr Aesthet Surg. 69(9):1285-90, 2016
                              Related Anatomy
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                              Related Differential Diagnoses
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                              References
                              Tables

                              Tables

                              KEY FACTS

                              • Terminology

                                • Imaging

                                  • Top Differential Diagnoses

                                    • Pathology

                                      • Clinical Issues

                                        TERMINOLOGY

                                        • Synonyms

                                          • Syndrome of coronal craniosynostosis
                                        • Definitions

                                          • Craniosynostosis with considerable phenotypic variability, often bilateral coronal synostosis, midfacial retrusion, hearing loss, and developmental delay
                                            • Midface retrusion: Posterior positioning and vertical facial shortening below orbits and adjacent to nose leading to prognathism

                                        IMAGING

                                        • General Features

                                          • Ultrasonographic Findings

                                            • Imaging Recommendations

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      • Treatment

                                                        DIAGNOSTIC CHECKLIST

                                                        • Consider

                                                          Selected References

                                                          1. den Ottelander BK et al: Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol. J Neurosurg Pediatr. 1-8, 2019
                                                          2. Murali CN et al: Muenke syndrome: medical and surgical comorbidities and long-term management. Am J Med Genet A. 179(8):1442-50, 2019
                                                          3. Kruszka P et al: Muenke syndrome. In: GeneReviews. Created May 10, 2006. Updated November 10, 2016. https://www.ncbi.nlm.nih.gov/books/NBK1415/
                                                          4. Kruszka P et al: Muenke syndrome: an international multicenter natural history study. Am J Med Genet A. 170A(4):918-29, 2016
                                                          5. Samra F et al: Assessing the midface in Muenke syndrome: a cephalometric analysis and review of the literature. J Plast Reconstr Aesthet Surg. 69(9):1285-90, 2016