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Craniostenoses
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Craniosynostosis, sutural synostosis, cranial dysostosis, craniofacial dysostosis
              • Definitions

                • Heterogeneous group with abnormal head shape, premature sutural closure and fusion
                  • Nonsyndromic (85%); isolated, classified according to involved suture(s)
                    • Simple (single) suture (75-80%)
                      • Abnormal head shape, (usually) normal intelligence
                      • Usually sporadic, operated for cosmetic reasons
                    • Multiple sutures (20-25%)
                      • Oxycephaly (40-50%), brachycephaly (30-40%), unclassified (20%)
                  • Syndromic (> 180 syndromes [15%]); multiple anomalies with (frequent) developmental delay
                    • Association with craniofacial, skeletal, nervous system, other anomalies
                    • Syndrome description based on clinical features
                      • Acrocephalosyndactyly type 1 (Apert)
                      • Acrocephalosyndactyly type 2 (Apert-Crouzon)
                      • Acrocephalosyndactyly type 3 (Saethre-Chotzen)
                      • Acrocephalosyndactyly type 4 (Waardenburg)
                      • Acrocephalosyndactyly type 5 (Pfeiffer)
                      • Acrocephalopolysyndactyly type 2 (Carpenter)
                    • Precise classification difficult due to considerable overlap; patients with same gene mutations may have different phenotypic manifestations

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Ultrasonographic Findings

                        • Nuclear Medicine Findings

                          • Imaging Recommendations

                            DIFFERENTIAL DIAGNOSIS

                              PATHOLOGY

                              • General Features

                                • Gross Pathologic & Surgical Features

                                  • Microscopic Features

                                    CLINICAL ISSUES

                                    • Presentation

                                      • Demographics

                                        • Natural History & Prognosis

                                          • Treatment

                                            DIAGNOSTIC CHECKLIST

                                            • Consider

                                              • Image Interpretation Pearls

                                                Selected References

                                                1. Assadsangabi R et al: Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly. Childs Nerv Syst. ePub, 2015
                                                2. di Rocco F et al: Y-craniosynostosis by premature fusion of the metopic and coronal sutures: A new nosological entity or a variety of Saethre-Chotzen syndrome? Birth Defects Res A Clin Mol Teratol. ePub, 2015
                                                3. Anderson IA et al: Does patient ethnicity affect site of craniosynostosis? J Neurosurg Pediatr. 14(6):682-7, 2014
                                                4. Calandrelli R et al: Identification of skull base sutures and craniofacial anomalies in children with craniosynostosis: utility of multidetector CT. Radiol Med. 119(9):694-704, 2014
                                                5. Greenwood J et al: Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med. 16(4):302-10, 2014
                                                6. Snider TN et al: Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering. Birth Defects Res C Embryo Today. 102(3):324-32, 2014
                                                7. Badve CA et al: Craniosynostosis: imaging review and primer on computed tomography. Pediatr Radiol. 43(6):728-42; quiz 725-7, 2013
                                                8. Birgfeld CB et al: Making the diagnosis: metopic ridge versus metopic craniosynostosis. J Craniofac Surg. 24(1):178-85, 2013
                                                9. Greig AV et al: Pfeiffer syndrome: analysis of a clinical series and development of a classification system. J Craniofac Surg. 24(1):204-15, 2013
                                                10. Jezela-Stanek A et al: Genetic causes of syndromic craniosynostoses. Eur J Paediatr Neurol. 17(3):221-4, 2013
                                                11. Kuang AA et al: Benign radiographic coronal synostosis after sagittal synostosis repair. J Craniofac Surg. 24(3):937-40, 2013
                                                12. Tubbs RS et al: Kleeblattsch├Ądel skull: a review of its history, diagnosis, associations, and treatment. Childs Nerv Syst. 29(5):745-8, 2013
                                                13. Derderian C et al: Syndromic craniosynostosis. Semin Plast Surg. 26(2):64-75, 2012
                                                14. Garza RM et al: Nonsyndromic craniosynostosis. Semin Plast Surg. 26(2):53-63, 2012
                                                15. Massimi L et al: Isolated sagittal craniosynostosis: definition, classification, and surgical indications. Childs Nerv Syst. 28(9):1311-7, 2012
                                                16. Blaser SI: Abnormal skull shape. Pediatr Radiol. 38 Suppl 3:S488-96, 2008
                                                17. Dover MS: Abnormal skull shape: clinical management. Pediatr Radiol. 38 Suppl 3:S484-7, 2008
                                                18. Slovis et al: Craniosynostosis, selected craniofacial syndromes, and other abnormalities of the skull. In Caffey's Pediatric Diagnostic Imaging. 11th ed. Amsterdam, Netherlands: Mosby-Elsevier. 471-500, 2008
                                                19. Blount JP et al: Pansynostosis: a review. Childs Nerv Syst. 23(10):1103-9, 2007
                                                20. Cunningham ML et al: Evaluation of the infant with an abnormal skull shape. Curr Opin Pediatr. 19(6):645-51, 2007
                                                21. Kapp-Simon KA et al: Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst. 23(3):269-81, 2007
                                                22. Kimonis V et al: Genetics of craniosynostosis. Semin Pediatr Neurol. 14(3):150-61, 2007
                                                23. Kotrikova B et al: Diagnostic imaging in the management of craniosynostoses. Eur Radiol. 17(8):1968-78, 2007
                                                24. Raybaud C et al: Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst. 23(12):1379-88, 2007
                                                25. Komotar RJ et al: Pitfalls for the pediatrician: positional molding or craniosynostosis? Pediatr Ann. 35(5):365-75, 2006
                                                26. Glass RB et al: The infant skull: a vault of information. Radiographics. 24(2):507-22, 2004
                                                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

                                                          • Diagnostic Checklist

                                                            TERMINOLOGY

                                                            • Synonyms

                                                              • Craniosynostosis, sutural synostosis, cranial dysostosis, craniofacial dysostosis
                                                            • Definitions

                                                              • Heterogeneous group with abnormal head shape, premature sutural closure and fusion
                                                                • Nonsyndromic (85%); isolated, classified according to involved suture(s)
                                                                  • Simple (single) suture (75-80%)
                                                                    • Abnormal head shape, (usually) normal intelligence
                                                                    • Usually sporadic, operated for cosmetic reasons
                                                                  • Multiple sutures (20-25%)
                                                                    • Oxycephaly (40-50%), brachycephaly (30-40%), unclassified (20%)
                                                                • Syndromic (> 180 syndromes [15%]); multiple anomalies with (frequent) developmental delay
                                                                  • Association with craniofacial, skeletal, nervous system, other anomalies
                                                                  • Syndrome description based on clinical features
                                                                    • Acrocephalosyndactyly type 1 (Apert)
                                                                    • Acrocephalosyndactyly type 2 (Apert-Crouzon)
                                                                    • Acrocephalosyndactyly type 3 (Saethre-Chotzen)
                                                                    • Acrocephalosyndactyly type 4 (Waardenburg)
                                                                    • Acrocephalosyndactyly type 5 (Pfeiffer)
                                                                    • Acrocephalopolysyndactyly type 2 (Carpenter)
                                                                  • Precise classification difficult due to considerable overlap; patients with same gene mutations may have different phenotypic manifestations

                                                            IMAGING

                                                            • General Features

                                                              • Radiographic Findings

                                                                • CT Findings

                                                                  • MR Findings

                                                                    • Ultrasonographic Findings

                                                                      • Nuclear Medicine Findings

                                                                        • Imaging Recommendations

                                                                          DIFFERENTIAL DIAGNOSIS

                                                                            PATHOLOGY

                                                                            • General Features

                                                                              • Gross Pathologic & Surgical Features

                                                                                • Microscopic Features

                                                                                  CLINICAL ISSUES

                                                                                  • Presentation

                                                                                    • Demographics

                                                                                      • Natural History & Prognosis

                                                                                        • Treatment

                                                                                          DIAGNOSTIC CHECKLIST

                                                                                          • Consider

                                                                                            • Image Interpretation Pearls

                                                                                              Selected References

                                                                                              1. Assadsangabi R et al: Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly. Childs Nerv Syst. ePub, 2015
                                                                                              2. di Rocco F et al: Y-craniosynostosis by premature fusion of the metopic and coronal sutures: A new nosological entity or a variety of Saethre-Chotzen syndrome? Birth Defects Res A Clin Mol Teratol. ePub, 2015
                                                                                              3. Anderson IA et al: Does patient ethnicity affect site of craniosynostosis? J Neurosurg Pediatr. 14(6):682-7, 2014
                                                                                              4. Calandrelli R et al: Identification of skull base sutures and craniofacial anomalies in children with craniosynostosis: utility of multidetector CT. Radiol Med. 119(9):694-704, 2014
                                                                                              5. Greenwood J et al: Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med. 16(4):302-10, 2014
                                                                                              6. Snider TN et al: Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering. Birth Defects Res C Embryo Today. 102(3):324-32, 2014
                                                                                              7. Badve CA et al: Craniosynostosis: imaging review and primer on computed tomography. Pediatr Radiol. 43(6):728-42; quiz 725-7, 2013
                                                                                              8. Birgfeld CB et al: Making the diagnosis: metopic ridge versus metopic craniosynostosis. J Craniofac Surg. 24(1):178-85, 2013
                                                                                              9. Greig AV et al: Pfeiffer syndrome: analysis of a clinical series and development of a classification system. J Craniofac Surg. 24(1):204-15, 2013
                                                                                              10. Jezela-Stanek A et al: Genetic causes of syndromic craniosynostoses. Eur J Paediatr Neurol. 17(3):221-4, 2013
                                                                                              11. Kuang AA et al: Benign radiographic coronal synostosis after sagittal synostosis repair. J Craniofac Surg. 24(3):937-40, 2013
                                                                                              12. Tubbs RS et al: Kleeblattsch├Ądel skull: a review of its history, diagnosis, associations, and treatment. Childs Nerv Syst. 29(5):745-8, 2013
                                                                                              13. Derderian C et al: Syndromic craniosynostosis. Semin Plast Surg. 26(2):64-75, 2012
                                                                                              14. Garza RM et al: Nonsyndromic craniosynostosis. Semin Plast Surg. 26(2):53-63, 2012
                                                                                              15. Massimi L et al: Isolated sagittal craniosynostosis: definition, classification, and surgical indications. Childs Nerv Syst. 28(9):1311-7, 2012
                                                                                              16. Blaser SI: Abnormal skull shape. Pediatr Radiol. 38 Suppl 3:S488-96, 2008
                                                                                              17. Dover MS: Abnormal skull shape: clinical management. Pediatr Radiol. 38 Suppl 3:S484-7, 2008
                                                                                              18. Slovis et al: Craniosynostosis, selected craniofacial syndromes, and other abnormalities of the skull. In Caffey's Pediatric Diagnostic Imaging. 11th ed. Amsterdam, Netherlands: Mosby-Elsevier. 471-500, 2008
                                                                                              19. Blount JP et al: Pansynostosis: a review. Childs Nerv Syst. 23(10):1103-9, 2007
                                                                                              20. Cunningham ML et al: Evaluation of the infant with an abnormal skull shape. Curr Opin Pediatr. 19(6):645-51, 2007
                                                                                              21. Kapp-Simon KA et al: Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst. 23(3):269-81, 2007
                                                                                              22. Kimonis V et al: Genetics of craniosynostosis. Semin Pediatr Neurol. 14(3):150-61, 2007
                                                                                              23. Kotrikova B et al: Diagnostic imaging in the management of craniosynostoses. Eur Radiol. 17(8):1968-78, 2007
                                                                                              24. Raybaud C et al: Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst. 23(12):1379-88, 2007
                                                                                              25. Komotar RJ et al: Pitfalls for the pediatrician: positional molding or craniosynostosis? Pediatr Ann. 35(5):365-75, 2006
                                                                                              26. Glass RB et al: The infant skull: a vault of information. Radiographics. 24(2):507-22, 2004