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Obstetrics
Diagnosis
Syndromes and Multisystem Disorders
PHACES Syndrome
PHACES Syndrome
Anne 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. PHACE syndrome community registry. Accessed February 10, 2021. http://www.phacesyndromecommunity.org
                              2. Bongsebandhu-Phubhakdi C et al: Endocrine manifestations of PHACE syndrome. J Pediatr Endocrinol Metab. 32(8):797-802, 2019
                              3. Stefanko NS et al: Natural history of PHACE syndrome: a survey of adults with PHACE. Pediatr Dermatol. 36(5):618-22, 2019
                              4. Leibovitz Z et al: The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome. Eur J Paediatr Neurol. 22(6):900-9, 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. Ginat DT et al: CT and MRI of congenital nasal lesions in syndromic conditions. Pediatr Radiol. 45(7):1056-65, 2015
                              9. 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
                              10. Léauté-Labrèze C et al: A randomized, controlled trial of oral propranolol in infantile hemangioma. N Engl J Med. 372(8):735-46, 2015
                              11. 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
                              12. 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
                              13. Hartzell LD et al: Current management of infantile hemangiomas and their common associated conditions. Otolaryngol Clin North Am. 45(3):545-56, vii, 2012
                              14. 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
                              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. PHACE syndrome community registry. Accessed February 10, 2021. http://www.phacesyndromecommunity.org
                                                          2. Bongsebandhu-Phubhakdi C et al: Endocrine manifestations of PHACE syndrome. J Pediatr Endocrinol Metab. 32(8):797-802, 2019
                                                          3. Stefanko NS et al: Natural history of PHACE syndrome: a survey of adults with PHACE. Pediatr Dermatol. 36(5):618-22, 2019
                                                          4. Leibovitz Z et al: The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome. Eur J Paediatr Neurol. 22(6):900-9, 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. Ginat DT et al: CT and MRI of congenital nasal lesions in syndromic conditions. Pediatr Radiol. 45(7):1056-65, 2015
                                                          9. 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
                                                          10. Léauté-Labrèze C et al: A randomized, controlled trial of oral propranolol in infantile hemangioma. N Engl J Med. 372(8):735-46, 2015
                                                          11. 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
                                                          12. 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
                                                          13. Hartzell LD et al: Current management of infantile hemangiomas and their common associated conditions. Otolaryngol Clin North Am. 45(3):545-56, vii, 2012
                                                          14. 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