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PHACES Syndrome
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Clinical Issues

        • Diagnostic Checklist

          TERMINOLOGY

          • Definitions

            • Syndrome comprising
              • Posterior fossa malformations
              • Segmental hemangiomas
              • Arterial anomalies
              • Cardiac defects
              • Eye abnormalities
              • Sternal or ventral defects

          IMAGING

          • Ultrasonographic Findings

            • MR Findings

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Presentation

                      • Demographics

                        • Natural History & Prognosis

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Image Interpretation Pearls

                              Selected References

                              1. Ginat DT et al: CT and MRI of congenital nasal lesions in syndromic conditions. Pediatr Radiol. 45(7):1056-65, 2015
                              2. Gnarra M et al: Propranolol and prednisolone combination for the treatment of segmental haemangioma in PHACES syndrome. Br J Dermatol. 173(1):242-6, 2015
                              3. Léauté-Labrèze C et al: A randomized, controlled trial of oral propranolol in infantile hemangioma. N Engl J Med. 372(8):735-46, 2015
                              4. Singh BA et al: Infantile hemangioma associated with PHACES syndrome showing a dramatic response to oral propranolol. Indian J Dermatol Venereol Leprol. 81(5):549, 2015
                              5. Massoud M et al: Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis. Ultrasound Obstet Gynecol. 44(4):447-54, 2013
                              6. Hartzell LD et al: Current management of infantile hemangiomas and their common associated conditions. Otolaryngol Clin North Am. 45(3):545-56, vii, 2012
                              7. Torre M et al: Phenotypic spectrum and management of sternal cleft: literature review and presentation of a new series. Eur J Cardiothorac Surg. 41(1):4-9, 2012
                              8. Giardini A et al: Need for comprehensive vascular assessment before surgical repair of aortic coarctation in PHACES syndrome. Pediatr Cardiol. 31(2):291-3, 2010
                              9. Hartemink DA et al: PHACES syndrome: a review. Int J Pediatr Otorhinolaryngol. 73(2):181-7, 2009
                              10. Roganović J et al: PHACES syndrome--case report and literature review. Coll Antropol. 33(1):311-4, 2009
                              11. Rudnick EF et al: PHACES syndrome: otolaryngic considerations in recognition and management. Int J Pediatr Otorhinolaryngol. 73(2):281-8, 2009
                              12. Thébault N et al: Prenatal diagnosis of a complete sternal cleft in a child with PHACES syndrome-a case report. Prenat Diagn. 29(2):179-81, 2009
                              13. Castillo M: PHACES syndrome: from the brain to the face via the neural crest cells. AJNR Am J Neuroradiol. 29(4):814-5, 2008
                              14. Mussa A et al: Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features. Acta Paediatr. 97(12):1729-33, 2008
                              15. Oza VS et al: PHACES association: a neuroradiologic review of 17 patients. AJNR Am J Neuroradiol. 29(4):807-13, 2008
                              16. Rao RP et al: PHACES association: a vasculocutaneous syndrome. Pediatr Cardiol. 29(4):793-9, 2008
                              17. Poindexter G et al: PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction. Pediatr Neurol. 36(6):402-6, 2007
                              18. Goddard DS et al: Hypopituitarism in PHACES Association. Pediatr Dermatol. 23(5):476-80, 2006
                              19. Carles D et al: Fetal presentation of PHACES syndrome. Am J Med Genet A. 132A(1):110, 2005
                              20. Kronenberg A et al: Ocular and systemic manifestations of PHACES (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and coarctation of the Aorta, Eye abnormalities, and Sternal abnormalities or ventral developmental defects) syndrome. J AAPOS. 9(2):169-73, 2005
                              21. Metry DW et al: The many faces of PHACE syndrome. J Pediatr. 139(1):117-23, 2001
                              Related Anatomy
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                              Related Differential Diagnoses
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                              References
                              Tables

                              Tables

                              KEY FACTS

                              • Terminology

                                • Imaging

                                  • Clinical Issues

                                    • Diagnostic Checklist

                                      TERMINOLOGY

                                      • Definitions

                                        • Syndrome comprising
                                          • Posterior fossa malformations
                                          • Segmental hemangiomas
                                          • Arterial anomalies
                                          • Cardiac defects
                                          • Eye abnormalities
                                          • Sternal or ventral defects

                                      IMAGING

                                      • Ultrasonographic Findings

                                        • MR Findings

                                          • Imaging Recommendations

                                            DIFFERENTIAL DIAGNOSIS

                                              PATHOLOGY

                                              • General Features

                                                CLINICAL ISSUES

                                                • Presentation

                                                  • Demographics

                                                    • Natural History & Prognosis

                                                      • Treatment

                                                        DIAGNOSTIC CHECKLIST

                                                        • Image Interpretation Pearls

                                                          Selected References

                                                          1. Ginat DT et al: CT and MRI of congenital nasal lesions in syndromic conditions. Pediatr Radiol. 45(7):1056-65, 2015
                                                          2. Gnarra M et al: Propranolol and prednisolone combination for the treatment of segmental haemangioma in PHACES syndrome. Br J Dermatol. 173(1):242-6, 2015
                                                          3. Léauté-Labrèze C et al: A randomized, controlled trial of oral propranolol in infantile hemangioma. N Engl J Med. 372(8):735-46, 2015
                                                          4. Singh BA et al: Infantile hemangioma associated with PHACES syndrome showing a dramatic response to oral propranolol. Indian J Dermatol Venereol Leprol. 81(5):549, 2015
                                                          5. Massoud M et al: Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis. Ultrasound Obstet Gynecol. 44(4):447-54, 2013
                                                          6. Hartzell LD et al: Current management of infantile hemangiomas and their common associated conditions. Otolaryngol Clin North Am. 45(3):545-56, vii, 2012
                                                          7. Torre M et al: Phenotypic spectrum and management of sternal cleft: literature review and presentation of a new series. Eur J Cardiothorac Surg. 41(1):4-9, 2012
                                                          8. Giardini A et al: Need for comprehensive vascular assessment before surgical repair of aortic coarctation in PHACES syndrome. Pediatr Cardiol. 31(2):291-3, 2010
                                                          9. Hartemink DA et al: PHACES syndrome: a review. Int J Pediatr Otorhinolaryngol. 73(2):181-7, 2009
                                                          10. Roganović J et al: PHACES syndrome--case report and literature review. Coll Antropol. 33(1):311-4, 2009
                                                          11. Rudnick EF et al: PHACES syndrome: otolaryngic considerations in recognition and management. Int J Pediatr Otorhinolaryngol. 73(2):281-8, 2009
                                                          12. Thébault N et al: Prenatal diagnosis of a complete sternal cleft in a child with PHACES syndrome-a case report. Prenat Diagn. 29(2):179-81, 2009
                                                          13. Castillo M: PHACES syndrome: from the brain to the face via the neural crest cells. AJNR Am J Neuroradiol. 29(4):814-5, 2008
                                                          14. Mussa A et al: Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features. Acta Paediatr. 97(12):1729-33, 2008
                                                          15. Oza VS et al: PHACES association: a neuroradiologic review of 17 patients. AJNR Am J Neuroradiol. 29(4):807-13, 2008
                                                          16. Rao RP et al: PHACES association: a vasculocutaneous syndrome. Pediatr Cardiol. 29(4):793-9, 2008
                                                          17. Poindexter G et al: PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction. Pediatr Neurol. 36(6):402-6, 2007
                                                          18. Goddard DS et al: Hypopituitarism in PHACES Association. Pediatr Dermatol. 23(5):476-80, 2006
                                                          19. Carles D et al: Fetal presentation of PHACES syndrome. Am J Med Genet A. 132A(1):110, 2005
                                                          20. Kronenberg A et al: Ocular and systemic manifestations of PHACES (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and coarctation of the Aorta, Eye abnormalities, and Sternal abnormalities or ventral developmental defects) syndrome. J AAPOS. 9(2):169-73, 2005
                                                          21. Metry DW et al: The many faces of PHACE syndrome. J Pediatr. 139(1):117-23, 2001