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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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Autores principales: Modica, Renee Frances, Barbeau, L. Daphna Yasova, Co-Vu, Jennifer, Beegle, Richard D., Williams, Charles A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4673332/
https://www.ncbi.nlm.nih.gov/pubmed/26688769
http://dx.doi.org/10.1155/2015/954628
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author Modica, Renee Frances
Barbeau, L. Daphna Yasova
Co-Vu, Jennifer
Beegle, Richard D.
Williams, Charles A.
author_facet Modica, Renee Frances
Barbeau, L. Daphna Yasova
Co-Vu, Jennifer
Beegle, Richard D.
Williams, Charles A.
author_sort Modica, Renee Frances
collection PubMed
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.
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spelling pubmed-46733322015-12-20 Goldenhar Syndrome Associated with Extensive Arterial Malformations Modica, Renee Frances Barbeau, L. Daphna Yasova Co-Vu, Jennifer Beegle, Richard D. Williams, Charles A. Case Rep Pediatr Case Report 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. Hindawi Publishing Corporation 2015 2015-11-25 /pmc/articles/PMC4673332/ /pubmed/26688769 http://dx.doi.org/10.1155/2015/954628 Text en Copyright © 2015 Renee Frances Modica et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Modica, Renee Frances
Barbeau, L. Daphna Yasova
Co-Vu, Jennifer
Beegle, Richard D.
Williams, Charles A.
Goldenhar Syndrome Associated with Extensive Arterial Malformations
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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4673332/
https://www.ncbi.nlm.nih.gov/pubmed/26688769
http://dx.doi.org/10.1155/2015/954628
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