link
Bookmarks
 (0)
Obstetrics
Diagnosis
Syndromes and Multisystem Disorders
PHACES Syndrome
PHACES Syndrome
Anne M. Kennedy, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
0
0
0

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
                              Loading...
                              Related Differential Diagnoses
                              Loading...
                              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
                                                          Contact UsStoreTerms and ConditionsRegistered User AgreementPrivacy PolicyHelp