Unilateral Sclerocornea and Tracheal Stenosis: Unusual Findings in a Patient with Goldenhar Anomaly

The Goldenhar anomaly (GA) is a heterogeneous field defect of uncertain cause and wide variability of expression, characterized by facial phenotypes, usually asymmetric and unilateral, accompanied by various combinations and gradations of cardiac, skeletal, renal, and central nervous system defects....

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Published inFetal and pediatric pathology Vol. 30; no. 6; pp. 397 - 404
Main Authors Furtado, Larissa V., Putnam, Angelica R., Viskochil, David H., Lowichik, Amy, Erickson, Lance K., Dries, David C., Opitz, John M.
Format Journal Article
LanguageEnglish
Published England Informa Healthcare 10.11.2011
Taylor & Francis
Subjects
Abnormalities, Multiple - pathology
autopsy
Cornea - abnormalities
Fatal Outcome
Goldenhar
Goldenhar Syndrome - complications
Goldenhar Syndrome - pathology
Humans
Infant
Male
oculoauricular vertebral anomaly
sclerocornea
tracheal stenosis
Tracheal Stenosis - complications
Tracheal Stenosis - pathology
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Summary:The Goldenhar anomaly (GA) is a heterogeneous field defect of uncertain cause and wide variability of expression, characterized by facial phenotypes, usually asymmetric and unilateral, accompanied by various combinations and gradations of cardiac, skeletal, renal, and central nervous system defects. We report the pathologic findings in a 5-month-old boy with GA, tracheal stenosis, and left unilateral sclerocornea. To the best of our knowledge this is the first description of sclerocornea in a patient with GA.
Bibliography:ObjectType-Case Study-2
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ISSN:1551-3815
1551-3823
DOI:10.3109/15513815.2011.618870