Abstract
Case: We report a case and associated images of an infant prenatally diagnosed with an aortic aneurysm and chest wall deformity. Postnatally, echocardiogram and MRI revealed a large aneurysm of the proximal descending aorta measuring 1.1 × 1.8 cm. The aneurysm began just distal to the origin of the left carotid artery, and a moderate pre-aneurysmal coarctation was noted. The origin of the left subclavian artery was distal to the aneurysm. In addition, partial sternal cleft with agenesis of the manubrium was noted. The intracranial anatomy was normal, and U/S and MRI revealed no hemangiomas of the head and neck vessels. Dermatologic evaluation revealed no evidence of cutaneous hemangiomas. Bronchoscopy revealed no hemangiomas of the respiratory tract. Ophthalmologic exam revealed normal ocular anatomy. Conclusion: Hemangiomas are the hallmark of both the sternal malformation/vascular dysplasia association and PHACES syndrome. We have, however, identified a case of sternal cleft with aortic aneurysm in the absence of cutaneous or visceral hemangiomas. Although these malformations may be unrelated, this case may also represent a variant of the PHACES syndrome.
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