Goldenhar Syndrome Associated with Extensive Arterial Malformations

• DOI: 10.1155/2015/954628
• Publication Date: 2015-11-25T21:02:35Z
• Authors: Renee Frances Modica; L. Daphna Yasova ...; Jennifer Co-Vu; Richard D. Beegle; Charles A. Williams
• Keywords: Goldenhar syndrome

Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects secondary to abnormal development of the 1st 2nd branchial arches vertebrae. Other findings include cardiac vascular abnormalities. Though these associations are known, specific anomalies not well defined. We present a 7-month-old infant with intermittent respiratory distress that did improve interventions. Echocardiogram suggested double aortic arch. Cardiac CT angiogram confirmed right arch aberrant, stenotic left subclavian artery, dilation main pulmonary agenesis thyroid lobe. Repeat echocardiograms were concerning for severely dilated coronary arteries. Given dilation, rheumatologic workup ensued, only identifying few weakly positive autoantibodies. Further imaging demonstrated narrowing aorta below renal arteries extending into common iliac proximal femoral physical exam devoid findings, autoantibodies, normal inflammatory markers, presence artery peripheral narrowings thought be vasculitic. This case illustrates need identify definitive related Syndrome. Although this infant’s presentation rare, recognition will help differentiate from other disease processes.