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Brain
Diagnosis
Pathology-Based Diagnoses
Congenital Malformations
Familial Tumor/Neurocutaneous Syndromes
PHACES Syndrome
PHACES Syndrome
Anne G. Osborn, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Definitions

            • PHACES syndrome
              • Posterior fossa malformations
              • Hemangioma
              • Arterial cerebrovascular anomalies
              • Coarctation of aorta and cardiac defects
              • Eye abnormalities
              • Sternal clefting or supraumbilical raphe

          IMAGING

          • General Features

            • MR Findings

              • Angiographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • Etiology

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          Selected References

                          1. Chamli A et al: PHACE syndrome, 2020
                          2. Goyal P et al: Pediatric congenital cerebrovascular anomalies. J Neuroimaging. 29(2):165-81, 2019
                          3. Leibovitz Z et al: The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome. Eur J Paediatr Neurol. 22(6):900-09, 2018
                          4. Steiner JE et al: Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. Am J Med Genet A. 176(1):48-55, 2018
                          5. Wan J et al: Prenatal risk factors for PHACE syndrome: a study using the PHACE syndrome International Clinical Registry and Genetic Repository. J Pediatr. 190:275-9, 2017
                          6. Wright JN et al: Asymmetric Meckel cave enlargement: a potential marker of PHACES syndrome. AJNR Am J Neuroradiol. 38(6):1223-7, 2017
                          7. Garzon MC et al: PHACE syndrome: consensus-derived diagnosis and care recommendations. J Pediatr. 178:24-33.e2, 2016
                          8. Burch EA et al: Pediatric central nervous system vascular malformations. Pediatr Radiol. 45 Suppl 3:S463-72, 2015
                          9. Bayer ML et al: Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry). Am J Cardiol. 112(12):1948-52, 2013
                          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

                                  TERMINOLOGY

                                  • Definitions

                                    • PHACES syndrome
                                      • Posterior fossa malformations
                                      • Hemangioma
                                      • Arterial cerebrovascular anomalies
                                      • Coarctation of aorta and cardiac defects
                                      • Eye abnormalities
                                      • Sternal clefting or supraumbilical raphe

                                  IMAGING

                                  • General Features

                                    • MR Findings

                                      • Angiographic Findings

                                        • Imaging Recommendations

                                          DIFFERENTIAL DIAGNOSIS

                                            PATHOLOGY

                                            • Etiology

                                              CLINICAL ISSUES

                                              • Presentation

                                                • Demographics

                                                  Selected References

                                                  1. Chamli A et al: PHACE syndrome, 2020
                                                  2. Goyal P et al: Pediatric congenital cerebrovascular anomalies. J Neuroimaging. 29(2):165-81, 2019
                                                  3. Leibovitz Z et al: The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome. Eur J Paediatr Neurol. 22(6):900-09, 2018
                                                  4. Steiner JE et al: Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. Am J Med Genet A. 176(1):48-55, 2018
                                                  5. Wan J et al: Prenatal risk factors for PHACE syndrome: a study using the PHACE syndrome International Clinical Registry and Genetic Repository. J Pediatr. 190:275-9, 2017
                                                  6. Wright JN et al: Asymmetric Meckel cave enlargement: a potential marker of PHACES syndrome. AJNR Am J Neuroradiol. 38(6):1223-7, 2017
                                                  7. Garzon MC et al: PHACE syndrome: consensus-derived diagnosis and care recommendations. J Pediatr. 178:24-33.e2, 2016
                                                  8. Burch EA et al: Pediatric central nervous system vascular malformations. Pediatr Radiol. 45 Suppl 3:S463-72, 2015
                                                  9. Bayer ML et al: Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry). Am J Cardiol. 112(12):1948-52, 2013