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Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum
Author(s) -
Sutphen Rebecca,
GalanGomez Enrique,
Cortada Xavier,
Newkirk Patricia N.,
Kousseff Boris G.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04057.x
Subject(s) - goldenhar syndrome , tracheoesophageal fistula , atresia , hemifacial microsomia , medicine , anatomy , craniofacial , psychiatry
Tracheoesophageal fistula, with or without esophageal atresia (TEF/EA) appears to be a defect of blastogenesis, as is the oculoauriculovertebral (Goldenhar) spectrum (OAVS), with which it has occasionally been associated. We reviewed the records of all OAVS patients evaluated through the University of South Florida Regional Genetics Program between 1985 and 1993. Of 60 OAVS patients, three had TEF/EA. These results suggest that TEF/EA in association with OAVS is underreported. The occurrence of TEF/EA should prompt a thorough search for other known anomalies of OAVS.