Rapid Communication| Volume 42, ISSUE 9, e1-e3, September 2007

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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.

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        • Shaw-Smith C.
        Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.
        J Med Genet. 2006; 43: 545-554
        • Harper P.S.
        The gastrointestinal tract.
        in: Harper P.S. Practical genetic counselling. 6th ed. Arnold, London2004: 281-290
        • Feingold M.
        Case report 30.
        Syndr Identification. 1975; 3: 16-17
        • Celli J.
        • van Bokhoven H.
        • Brunner H.G.
        Feingold syndrome: clinical review and genetic mapping.
        Am J Med Genet A. 2003; 122: 294-300
        • Roeder E.
        • van Galen P.
        • Ali-Khan Catts Z.
        • et al.
        Feingold syndrome: report of an additional family and unusual intestinal manifestations.
        Proc Greenwood Ctr. 2002; 21: 125
        • van Bokhoven H.
        • Celli J.
        • van Reeuwijk J.
        • et al.
        MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
        Nat Genet. 2005; 37: 465-467
        • Tellier A.L.
        • Cormier-Daire V.
        • Abadie V.
        • et al.
        CHARGE syndrome: report of 47 cases and review.
        Am J Med Genet. 1998; 76: 402-409
        • Shah D.
        • Jones R.
        • Porter H.
        • et al.
        Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome.
        Am J Med Genet. 1997; 70: 171-173