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2015 ; 2015
(ä): 954628
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Goldenhar Syndrome Associated with Extensive Arterial Malformations
#MMPMID26688769
Modica RF
; Barbeau LD
; Co-Vu J
; Beegle RD
; Williams CA
Case Rep Pediatr
2015[]; 2015
(ä): 954628
PMID26688769
show ga
Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects
secondary to abnormal development of the 1st and 2nd branchial arches and
vertebrae. Other findings include cardiac and vascular abnormalities. Though
these associations are known, the specific anomalies are not well defined. We
present a 7-month-old infant with intermittent respiratory distress that did not
improve with respiratory interventions. Echocardiogram suggested a double aortic
arch. Cardiac CT angiogram confirmed a right arch and aberrant, stenotic left
subclavian artery, dilation of the main pulmonary artery, and agenesis of the
left thyroid lobe. Repeat echocardiograms were concerning for severely dilated
coronary arteries. Given dilation, a rheumatologic workup ensued, only
identifying few weakly positive autoantibodies. Further imaging demonstrated
narrowing of the aorta below the renal arteries and extending into the common
iliac arteries and proximal femoral arteries. Given a physical exam devoid of
rheumatologic findings, only weakly positive autoantibodies, normal inflammatory
markers, and presence of the coronary artery dilation, the peripheral artery
narrowings were not thought to be vasculitic. This case illustrates the need to
identify definitive anomalies related to Goldenhar Syndrome. Although this
infant's presentation is rare, recognition of specific vascular findings will
help differentiate Goldenhar Syndrome from other disease processes.