Goldenhar Syndrome Associated with Extensive Arterial Malformations
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 d...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2015/954628 |
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| author | Renee Frances Modica L. Daphna Yasova Barbeau Jennifer Co-Vu Richard D. Beegle Charles A. Williams |
| author_facet | Renee Frances Modica L. Daphna Yasova Barbeau Jennifer Co-Vu Richard D. Beegle Charles A. Williams |
| author_sort | Renee Frances Modica |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-b5ccfceecb374d66bba6439d250ef21f |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-b5ccfceecb374d66bba6439d250ef21f2025-02-03T06:11:43ZengWileyCase Reports in Pediatrics2090-68032090-68112015-01-01201510.1155/2015/954628954628Goldenhar Syndrome Associated with Extensive Arterial MalformationsRenee Frances Modica0L. Daphna Yasova Barbeau1Jennifer Co-Vu2Richard D. Beegle3Charles A. Williams4University of Florida, Gainesville, FL, USAUniversity of Florida, Gainesville, FL, USAUniversity of Florida, Gainesville, FL, USAUniversity of Florida, Gainesville, FL, USAUniversity of Florida, Gainesville, FL, USAGoldenhar 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.http://dx.doi.org/10.1155/2015/954628 |
| spellingShingle | Renee Frances Modica L. Daphna Yasova Barbeau Jennifer Co-Vu Richard D. Beegle Charles A. Williams Goldenhar Syndrome Associated with Extensive Arterial Malformations Case Reports in Pediatrics |
| title | Goldenhar Syndrome Associated with Extensive Arterial Malformations |
| title_full | Goldenhar Syndrome Associated with Extensive Arterial Malformations |
| title_fullStr | Goldenhar Syndrome Associated with Extensive Arterial Malformations |
| title_full_unstemmed | Goldenhar Syndrome Associated with Extensive Arterial Malformations |
| title_short | Goldenhar Syndrome Associated with Extensive Arterial Malformations |
| title_sort | goldenhar syndrome associated with extensive arterial malformations |
| url | http://dx.doi.org/10.1155/2015/954628 |
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