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Craniosynostoses
Usha D. Nagaraj, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Synonyms

              • Craniosynostosis, craniostenosis, sutural synostosis, premature sutural fusion
            • Definitions

              • Premature fusion of 1 or more cranial sutures, often resulting in abnormal cranial morphology &/or size
              • Can be primary or secondary
                • Primary: Underlying genetic abnormality; can be nonsyndromic (most common) or syndromic
                  • Nonsyndromic (~ 85%): Usually sporadic
                    • Simple or single-suture synostosis (~ 75-80%): Typically normal development, intelligence, & intracranial pressure (ICP)
                    • Multisuture nonsyndromic (~ 20-25%): If > 2 sutures involved, high incidence of ↑ ICP, cerebellar tonsillar herniation, & developmental delay
                  • Syndromic (~ 15%): > 200 associated syndromes; high incidence of other associated anomalies & developmental delay
                    • Precise classification is difficult due to considerable overlap; patients with same gene mutations can have different phenotypic manifestations
                • Secondary: From external causes
                  • Intrauterine skull compression (especially in oligohydramnios)
                  • Teratogens: Phenytoin, valproic acid, retinoic acid
                  • Lack of normal brain growth
                  • Shunt induced
                  • Metabolic disorders: Rickets, hyperthyroidism, lysosomal storage disorders

            IMAGING

            • General Features

              • Radiographic Findings

                • CT Findings

                  • MR Findings

                    • Ultrasonographic 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. Okamoto T et al: Cranial suture measurement by 2-point method in ultrasound screening of craniosynostosis. Plast Reconstr Surg Glob Open. 7(5):e2225, 2019
                                            2. Barkovich MJ et al: Congenital malformations of the brain and skull. In Barkovich AJ et al: Pediatric Neuroimaging. 6th ed. Wolters Kleuwer. 592-7, 2018
                                            3. Cyprus GN et al: Spatial regulation of gene expression in nonsyndromic sagittal craniosynostosis. J Neurosurg Pediatr. 1-7, 2018
                                            4. Ginat DT et al: CT imaging findings after craniosynostosis reconstructive surgery. Pediatr Neurosurg. 53(4):215-21, 2018
                                            5. Isaac KV et al: Analysis of clinical outcomes for treatment of sagittal craniosynostosis: a comparison of endoscopic suturectomy and cranial vault remodeling. J Neurosurg Pediatr. 1-8, 2018
                                            6. Kestle JRW et al: Variation in the management of isolated craniosynostosis: a survey of the Synostosis Research Group. J Neurosurg Pediatr. 1-5, 2018
                                            7. Yan H et al: A systematic review of endoscopic versus open treatment of craniosynostosis. Part 2: the nonsagittal single sutures. J Neurosurg Pediatr. 22(4):361-8, 2018
                                            8. Moosa S et al: Altered FGF signalling in congenital craniofacial and skeletal disorders. Semin Cell Dev Biol. 53:115-25, 2016
                                            9. Assadsangabi R et al: Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly. Childs Nerv Syst. 31(5):735-41, 2015
                                            10. Blaser SI et al: Skull base development and craniosynostosis. Pediatr Radiol. 45 Suppl 3:S485-96, 2015
                                            11. 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. 103(4):306-10, 2015
                                            12. Governale LS: Craniosynostosis. Pediatr Neurol. 53(5):394-401, 2015
                                            13. Idriz S et al: CT of normal developmental and variant anatomy of the pediatric skull: distinguishing trauma from normality. Radiographics. 35(5):1585-601, 2015
                                            14. Ishii M et al: The development of the calvarial bones and sutures and the pathophysiology of craniosynostosis. Curr Top Dev Biol. 115:131-56, 2015
                                            15. 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
                                            16. 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
                                            17. Badve CA et al: Craniosynostosis: imaging review and primer on computed tomography. Pediatr Radiol. 43(6):728-42; quiz 725-7, 2013
                                            18. Birgfeld CB et al: Making the diagnosis: metopic ridge versus metopic craniosynostosis. J Craniofac Surg. 24(1):178-85, 2013
                                            19. 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
                                            20. Jezela-Stanek A et al: Genetic causes of syndromic craniosynostoses. Eur J Paediatr Neurol. 17(3):221-4, 2013
                                            21. Tubbs RS et al: Kleeblattschädel skull: a review of its history, diagnosis, associations, and treatment. Childs Nerv Syst. 29(5):745-8, 2013
                                            22. Derderian C et al: Syndromic craniosynostosis. Semin Plast Surg. 26(2):64-75, 2012
                                            23. Garza RM et al: Nonsyndromic craniosynostosis. Semin Plast Surg. 26(2):53-63, 2012
                                            24. Massimi L et al: Isolated sagittal craniosynostosis: definition, classification, and surgical indications. Childs Nerv Syst. 28(9):1311-7, 2012
                                            25. Blaser SI: Abnormal skull shape. Pediatr Radiol. 38 Suppl 3:S488-96, 2008
                                            26. Blount JP et al: Pansynostosis: a review. Childs Nerv Syst. 23(10):1103-9, 2007
                                            27. Kapp-Simon KA et al: Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst. 23(3):269-81, 2007
                                            28. Kimonis V et al: Genetics of craniosynostosis. Semin Pediatr Neurol. 14(3):150-61, 2007
                                            29. 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
                                            30. Komotar RJ et al: Pitfalls for the pediatrician: positional molding or craniosynostosis? Pediatr Ann. 35(5):365-75, 2006
                                            Related Anatomy
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                                            Related Differential Diagnoses
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                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Top Differential Diagnoses

                                                  • Clinical Issues

                                                    • Diagnostic Checklist

                                                      TERMINOLOGY

                                                      • Synonyms

                                                        • Craniosynostosis, craniostenosis, sutural synostosis, premature sutural fusion
                                                      • Definitions

                                                        • Premature fusion of 1 or more cranial sutures, often resulting in abnormal cranial morphology &/or size
                                                        • Can be primary or secondary
                                                          • Primary: Underlying genetic abnormality; can be nonsyndromic (most common) or syndromic
                                                            • Nonsyndromic (~ 85%): Usually sporadic
                                                              • Simple or single-suture synostosis (~ 75-80%): Typically normal development, intelligence, & intracranial pressure (ICP)
                                                              • Multisuture nonsyndromic (~ 20-25%): If > 2 sutures involved, high incidence of ↑ ICP, cerebellar tonsillar herniation, & developmental delay
                                                            • Syndromic (~ 15%): > 200 associated syndromes; high incidence of other associated anomalies & developmental delay
                                                              • Precise classification is difficult due to considerable overlap; patients with same gene mutations can have different phenotypic manifestations
                                                          • Secondary: From external causes
                                                            • Intrauterine skull compression (especially in oligohydramnios)
                                                            • Teratogens: Phenytoin, valproic acid, retinoic acid
                                                            • Lack of normal brain growth
                                                            • Shunt induced
                                                            • Metabolic disorders: Rickets, hyperthyroidism, lysosomal storage disorders

                                                      IMAGING

                                                      • General Features

                                                        • Radiographic Findings

                                                          • CT Findings

                                                            • MR Findings

                                                              • Ultrasonographic 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. Okamoto T et al: Cranial suture measurement by 2-point method in ultrasound screening of craniosynostosis. Plast Reconstr Surg Glob Open. 7(5):e2225, 2019
                                                                                      2. Barkovich MJ et al: Congenital malformations of the brain and skull. In Barkovich AJ et al: Pediatric Neuroimaging. 6th ed. Wolters Kleuwer. 592-7, 2018
                                                                                      3. Cyprus GN et al: Spatial regulation of gene expression in nonsyndromic sagittal craniosynostosis. J Neurosurg Pediatr. 1-7, 2018
                                                                                      4. Ginat DT et al: CT imaging findings after craniosynostosis reconstructive surgery. Pediatr Neurosurg. 53(4):215-21, 2018
                                                                                      5. Isaac KV et al: Analysis of clinical outcomes for treatment of sagittal craniosynostosis: a comparison of endoscopic suturectomy and cranial vault remodeling. J Neurosurg Pediatr. 1-8, 2018
                                                                                      6. Kestle JRW et al: Variation in the management of isolated craniosynostosis: a survey of the Synostosis Research Group. J Neurosurg Pediatr. 1-5, 2018
                                                                                      7. Yan H et al: A systematic review of endoscopic versus open treatment of craniosynostosis. Part 2: the nonsagittal single sutures. J Neurosurg Pediatr. 22(4):361-8, 2018
                                                                                      8. Moosa S et al: Altered FGF signalling in congenital craniofacial and skeletal disorders. Semin Cell Dev Biol. 53:115-25, 2016
                                                                                      9. Assadsangabi R et al: Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly. Childs Nerv Syst. 31(5):735-41, 2015
                                                                                      10. Blaser SI et al: Skull base development and craniosynostosis. Pediatr Radiol. 45 Suppl 3:S485-96, 2015
                                                                                      11. 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. 103(4):306-10, 2015
                                                                                      12. Governale LS: Craniosynostosis. Pediatr Neurol. 53(5):394-401, 2015
                                                                                      13. Idriz S et al: CT of normal developmental and variant anatomy of the pediatric skull: distinguishing trauma from normality. Radiographics. 35(5):1585-601, 2015
                                                                                      14. Ishii M et al: The development of the calvarial bones and sutures and the pathophysiology of craniosynostosis. Curr Top Dev Biol. 115:131-56, 2015
                                                                                      15. 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
                                                                                      16. 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
                                                                                      17. Badve CA et al: Craniosynostosis: imaging review and primer on computed tomography. Pediatr Radiol. 43(6):728-42; quiz 725-7, 2013
                                                                                      18. Birgfeld CB et al: Making the diagnosis: metopic ridge versus metopic craniosynostosis. J Craniofac Surg. 24(1):178-85, 2013
                                                                                      19. 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
                                                                                      20. Jezela-Stanek A et al: Genetic causes of syndromic craniosynostoses. Eur J Paediatr Neurol. 17(3):221-4, 2013
                                                                                      21. Tubbs RS et al: Kleeblattschädel skull: a review of its history, diagnosis, associations, and treatment. Childs Nerv Syst. 29(5):745-8, 2013
                                                                                      22. Derderian C et al: Syndromic craniosynostosis. Semin Plast Surg. 26(2):64-75, 2012
                                                                                      23. Garza RM et al: Nonsyndromic craniosynostosis. Semin Plast Surg. 26(2):53-63, 2012
                                                                                      24. Massimi L et al: Isolated sagittal craniosynostosis: definition, classification, and surgical indications. Childs Nerv Syst. 28(9):1311-7, 2012
                                                                                      25. Blaser SI: Abnormal skull shape. Pediatr Radiol. 38 Suppl 3:S488-96, 2008
                                                                                      26. Blount JP et al: Pansynostosis: a review. Childs Nerv Syst. 23(10):1103-9, 2007
                                                                                      27. Kapp-Simon KA et al: Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst. 23(3):269-81, 2007
                                                                                      28. Kimonis V et al: Genetics of craniosynostosis. Semin Pediatr Neurol. 14(3):150-61, 2007
                                                                                      29. 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
                                                                                      30. Komotar RJ et al: Pitfalls for the pediatrician: positional molding or craniosynostosis? Pediatr Ann. 35(5):365-75, 2006