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 in | Fetal and pediatric pathology Vol. 30; no. 6; pp. 397 - 404 |
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| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Informa Healthcare
10.11.2011
Taylor & Francis |
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| Online Access | Get full text |
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| Abstract | 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. |
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| AbstractList | 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. |
| Author | Furtado, Larissa V. Lowichik, Amy Erickson, Lance K. Dries, David C. Opitz, John M. Viskochil, David H. Putnam, Angelica R. |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/22059460$$D View this record in MEDLINE/PubMed |
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| References_xml | – volume: 3 start-page: 313 year: 1983 ident: CIT0009 publication-title: Journal of Craniofacial Genetics and Developmental Biology contributor: fullname: Wilson GN – volume: 1 start-page: 49 year: 1981 ident: CIT0008 publication-title: Journal of Craniofacial Genetics and Developmental Biology contributor: fullname: Hodes ME – volume: 2 start-page: 104 year: 1969 ident: CIT0013 publication-title: Birth Defects: Original Article Series V contributor: fullname: Opitz JM – volume: 118 start-page: 436 year: 1992 ident: CIT0016 publication-title: Archives of Otolaryngology - Head & Neck Surgery doi: 10.1001/archotol.1992.01880040102017 contributor: fullname: Inglis AF – volume: 48 start-page: 66 year: 1995 ident: CIT0014 publication-title: Clinical Genetics doi: 10.1111/j.1399-0004.1995.tb04057.x contributor: fullname: Sutphen R – volume: 82 start-page: 75 year: 2006 ident: CIT0025 publication-title: J Pediatr (Rio J) doi: 10.2223/JPED.1441 contributor: fullname: Verona LL – volume: 46 start-page: 68 year: 1993 ident: CIT0012 publication-title: American Journal of Medical Genetics doi: 10.1002/ajmg.1320460111 contributor: fullname: Kobrynski L – volume: 29 start-page: 755 year: 1988 ident: CIT0024 publication-title: American Journal of Medical Genetics doi: 10.1002/ajmg.1320290404 contributor: fullname: Ryan CA – volume: 2 start-page: 190 year: 1991 ident: CIT0015 publication-title: Journal of Perinatology contributor: fullname: Downing GJ – volume: 149 start-page: 2860 year: 2009 ident: CIT0010 publication-title: American Journal of Medical Genetics A doi: 10.1002/ajmg.a.33034 contributor: fullname: Digilio MC – volume: 28 start-page: 103 year: 1987 ident: CIT0023 publication-title: American Journal of Medical Genetics doi: 10.1002/ajmg.1320280115 contributor: fullname: Bowles DJ – volume: 146 start-page: 904 year: 2008 ident: CIT0017 publication-title: American Journal of Medical Genetics A doi: 10.1002/ajmg.a.32156 contributor: fullname: Binenbaum G – volume: 10 start-page: 687 issue: 9 year: 1971 ident: CIT0018 publication-title: Investigative Ophthalmology contributor: fullname: Kanai A – volume: 29 start-page: 3 year: 1993 ident: CIT0001 publication-title: Birth Defects Orig Artic Ser contributor: fullname: Opitz JM. – volume: 1 start-page: 243 year: 1952 ident: CIT0003 publication-title: J Genet Hum contributor: fullname: Goldenhar M – volume: 36 start-page: 485 year: 1965 ident: CIT0004 publication-title: Plastic and Reconstructive Surgery doi: 10.1097/00006534-196511000-00001 contributor: fullname: Grabb WC – volume: 26 start-page: 361 year: 1987 ident: CIT0005 publication-title: American Journal of Medical Genetics doi: 10.1002/ajmg.1320260215 contributor: fullname: Rollnick BR – volume: 7 start-page: 226 year: 2003 ident: CIT0007 publication-title: Journal of American Association for Pediatric Ophthalmology and Strabismus doi: 10.1016/S1091-8531(02)42019-8 contributor: fullname: Choong YF – volume: 43 start-page: 1695—1701 year: 2002 ident: CIT0019 publication-title: Investigative Ophthalmology & Visual Science contributor: fullname: Austin BA – volume: 90 start-page: 391 year: 2006 ident: CIT0020 publication-title: The British Journal of Ophthalmology doi: 10.1136/bjo.2005.085803 contributor: fullname: Young RD – volume: 13 start-page: 315 year: 2004 ident: CIT0021 publication-title: Human Molecular Genetics doi: 10.1093/hmg/ddh025 contributor: fullname: Voronina VA – volume: 115 start-page: 269 year: 2002 ident: CIT0002 publication-title: American Journal of Medical Genetics doi: 10.1002/ajmg.10983 contributor: fullname: Opitz JM – volume: 35 start-page: 302 year: 1973 ident: CIT0022 publication-title: Oral Surgery doi: 10.1016/0030-4220(73)90070-4 contributor: fullname: Poswillo D – volume: 18 start-page: 277 year: 2007 ident: CIT0011 publication-title: Genetic Counseling contributor: fullname: Engiz O – volume: 146 start-page: 2490 year: 2008 ident: CIT0006 publication-title: American Journal of Medical Genetics A doi: 10.1002/ajmg.a.32479 contributor: fullname: Ala-Mello S |
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| SubjectTerms | 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 |
| Title | Unilateral Sclerocornea and Tracheal Stenosis: Unusual Findings in a Patient with Goldenhar Anomaly |
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