Abstract
Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are common congenital
malformations and are associated with additional anomalies in approximately half of
cases. Feingold syndrome is an important genetic cause of syndromic EA-TEF to consider
in patients with associated microcephaly and digital anomalies. We present a case
report of a male infant with EA-TEF, microcephaly, subtle facial dysmorphism, dysplastic
kidney, short fifth fingers, second finger clinodactyly, and increased spacing between
the first and second toes bilaterally. His clinical presentation was suggestive of
Feingold syndrome, and genetic testing of the MYCN gene confirmed the diagnosis. Feingold syndrome is an autosomal dominant condition,
and therefore, the diagnosis has important implications for genetic counseling.
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References
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© 2007 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
