PHACE syndrome community registry. Accessed February 10, 2021. http://www.phacesyndromecommunity.org
Bongsebandhu-Phubhakdi C et al: Endocrine manifestations of PHACE syndrome. J Pediatr Endocrinol Metab. 32(8):797-802, 2019
Stefanko NS et al: Natural history of PHACE syndrome: a survey of adults with PHACE. Pediatr Dermatol. 36(5):618-22, 2019
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
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
Wright JN et al: Asymmetric meckel cave enlargement: a potential marker of PHACES syndrome. AJNR Am J Neuroradiol. 38(6):1223-7, 2017
Garzon MC et al: PHACE syndrome: consensus-derived diagnosis and care recommendations. J Pediatr. 178:24-33.e2, 2016
Ginat DT et al: CT and MRI of congenital nasal lesions in syndromic conditions. Pediatr Radiol. 45(7):1056-65, 2015
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
Léauté-Labrèze C et al: A randomized, controlled trial of oral propranolol in infantile hemangioma. N Engl J Med. 372(8):735-46, 2015
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
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
Hartzell LD et al: Current management of infantile hemangiomas and their common associated conditions. Otolaryngol Clin North Am. 45(3):545-56, vii, 2012
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
PHACE syndrome community registry. Accessed February 10, 2021. http://www.phacesyndromecommunity.org
Bongsebandhu-Phubhakdi C et al: Endocrine manifestations of PHACE syndrome. J Pediatr Endocrinol Metab. 32(8):797-802, 2019
Stefanko NS et al: Natural history of PHACE syndrome: a survey of adults with PHACE. Pediatr Dermatol. 36(5):618-22, 2019
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
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
Wright JN et al: Asymmetric meckel cave enlargement: a potential marker of PHACES syndrome. AJNR Am J Neuroradiol. 38(6):1223-7, 2017
Garzon MC et al: PHACE syndrome: consensus-derived diagnosis and care recommendations. J Pediatr. 178:24-33.e2, 2016
Ginat DT et al: CT and MRI of congenital nasal lesions in syndromic conditions. Pediatr Radiol. 45(7):1056-65, 2015
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
Léauté-Labrèze C et al: A randomized, controlled trial of oral propranolol in infantile hemangioma. N Engl J Med. 372(8):735-46, 2015
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
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
Hartzell LD et al: Current management of infantile hemangiomas and their common associated conditions. Otolaryngol Clin North Am. 45(3):545-56, vii, 2012
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
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