PHACES syndrome with Ectopia cordis

Rambabu Sharma, Dhan Raj Bagri, Narendra Jangid


PHACES syndrome is an acronym for, P, posterior fossa anomalies as Dandy- Walker malformation; H, hemangioma (capillary segmental faces); A, arterial lesions of the head and neck (the most common ones include aberrant origin or course, hypoplasia, dysplasia and agenesis); C, cardiac abnormalities as coarctation of aorta; E, abnormalities of the eye and S, sternal defect. The constellation of findings of PHACES syndrome may vary significantly in different patients. Complete sternal cleft with ectopia cordis is an extremely rare congenital anomaly failed ventral migration and fusion of the two-lateral mesodermal sternal bands between the sixth and ninth weeks of gestation. We are reporting a rare case of PHACES syndrome, with partial ectopia cordis as a midline defect, who is in our follow up since birth. Survival of the child without surgical intervention with epithelialization over the defect and Leucomatous corneal opacity are interesting findings.


Ectopia cordis, Hemangioma, Leucomatous corneal opacity, PHACES syndrome

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Engum SA. Embryology, sternal clefts, ectopia cordis, and Cantrell’s pentalogy. Semin Pediatr Surg. 2008;17:154-60.

Kilcline C, Frieden IJ. Infantile hemangiomas: how common are they? A systematic review of the literature. Pediatr Dermatol. 2008;25(2):168-73.

Chiller KG, Passaro D, Frieden IJ. Hemangiomas of infacy: clinical characteristics, morphologic subtypes, and their relationship to race, ethnicity, and sex. Arch Dermatol. 2002;138:1567-76.

Pascual-Castroviejo I. Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiol. 1978;16:82-4.

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;132:307-11.

Pascual-Castroviejo I, Viano J, Moreno F, Palencia R, Fernandez MV, Pascual-Pascual SI, et al. Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome. Am J Neuroradiol. 1996;17:461-71.

Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, et al. Consensus statement on diagnostic criteria for PHACE syndrome. Pediatr. 2009;124:1447-56.

Haggsrome AN, Garzon MC, Baselga E, Chamiln S, Frieden IJ, Holland K, et al. Risk for PHACE Syndrome in Infants with large facial hemangiomas. Pediatr. 2010;126:418-26.

Bronzetti G, Giardini A, Patrizi A, Prandstraller D, Donti A, Formigiar R, et al. Ipsilateral hemangioma and aortic arch anomalies in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and cardiac defects and eye abnormalities (PHACE) anomaly: report and review. Pediatr. 2004;113:412-5.

Grałek M. Pediatric ophthalmology and squint. Basic and clinical science course (ed.) Part 6, 1st edition Polish. Urban and Partner Medical Publishing; 2004.

Shalak L, Kaddoura I, Obeid M, Hashem H, Haidar R, Bitar FF. Complete cleft sternum and congenital heart disease: review of the literature. Pediatr Int. 2002;44:314-6.