PHACES: A neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels

Cardiology in the Young

Volumn 14, Issue 2, 2004, Pages 206-209

  Wendelin, Gerald ^a   Kitzmüller, Erwin ^a   Salzer Muhar, Ulrike ^a,b  

^a UNIVERSITY OF VIENNA   (Austria)

^b UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

Author keywords

Aortic anomalies; Arterial anomalies; Cardiac defects; Haemangiomas; PHACE

Indexed keywords

CORTICOSTEROID;

ANAMNESIS; AORTA ARCH; AORTA COARCTATION; ARTERY MALFORMATION; ARTICLE; AWARENESS; BRAIN MALFORMATION; CARDIOVASCULAR MALFORMATION; CASE REPORT; CEREBROVASCULAR MALFORMATION; CLINICAL FEATURE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; END TO END ANASTOMOSIS; EYE MALFORMATION; FAMILY HISTORY; FEMALE; HEMANGIOMA; HUMAN; LARYNGOSCOPY; LASER COAGULATION; MEDICAL SPECIALIST; NUCLEAR MAGNETIC RESONANCE IMAGING; PHAKOMATOSIS; POSTERIOR FOSSA; PRESCHOOL CHILD; RARE DISEASE; RESPIRATORY TRACT DISEASE; SURGICAL TECHNIQUE; CHILD; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; FOLLOW UP; HEART SURGERY; MAGNETIC RESONANCE ANGIOGRAPHY; METHODOLOGY; MULTIPLE MALFORMATION SYNDROME; REVIEW; RISK FACTOR; STERNUM; TREATMENT OUTCOME; VASCULAR SURGERY;

ABNORMALITIES, MULTIPLE; AORTIC COARCTATION; CARDIAC SURGICAL PROCEDURES; CHILD; CRANIAL FOSSA, POSTERIOR; FEMALE; FOLLOW-UP STUDIES; HEART DEFECTS, CONGENITAL; HEMANGIOMA; HUMANS; MAGNETIC RESONANCE ANGIOGRAPHY; NEUROCUTANEOUS SYNDROMES; RISK FACTORS; STERNUM; TREATMENT OUTCOME; VASCULAR SURGICAL PROCEDURES;

EID: 20544463518     PISSN: 10479511     EISSN: 14671107     Source Type: Journal    
DOI: 10.1017/S1047951104002173     Document Type: Article

References (10)

1. Metry D, Herbert AA. Benign cutaneous vascular tumors of infancy. When to worry, what to do. Arch Dermatol 2000; 136: 905-914.
2. Burns AJ, Kaplan LC, Mulliken JB. Is there an association between hemangioma and syndromes with dysmorphic features? Pediatrics 1991; 88: 1257-1267.
3. Pascual-Castroviejo I. Vascular and nonvascular intracranial malformations associated with external capillary hemangiomas. Neuroradiology 1978; 16: 82-84.
4. Frieden IJ, Reese V, Cohen D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 1996; 132: 307-311.
5. Gorlin RJ, Kantaputra P, Aughton DJ, Mulliken JB. Marked female predilection in some syndromes associated with facial hemangiomas. Am J Genet 1994; 52: 130-135.
6. Pascual-Castroviejo I, Viano J, Moreno F, Palencia R, Martinez-Fernandez V, Pascual-Pascual SI, Martinez-Bermejo A, Garcia-Penas JJ, Roche MC. Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: A complex neurocutaneous syndrome. Am J Neuroradiol 1996; 17: 461-471.
7. Drolet BA, Esterly NB, Frieden IJ. Hemangiomas in children. N Engl J Med 1999; 341: 173-181.
8. Metry DW, Dowd CF, Barkovich AJ, Frieden IJ. The many faces of PHACE syndrome. J Pediatr 2001; 139: 117-123.
9. Coats DK, Paysse EA, Levy ML. PHACE: A neurocutoneous syndrome with important ophthalmologic implications: Case report and literature review. Ophthalmology 1999; 106: 1739-1741.
10. James PA, McGaughran J. Complete overlap of PHACE syndrome and sternal malformation-vascular dysplasia association. Am J Med Genet 2002; 110: 78-84.