Feingold syndome: a rare but important cause of syndromic tracheoesophageal fistula.
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.
Layman-Pleet
Leah
L
University of Ottawa Medical School, Ottawa, Ontario, Canada.
Jackson
Carl-Christian A
CC
Chou
Shirley
S
Boycott
Kym M
KM
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D004933:Esophageal Atresia / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins / Q000235:genetics; D015513:Oncogene Proteins / Q000235:genetics; D013577:Syndrome; D014138:Tracheoesophageal Fistula / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery
C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins