Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review.
CHARGE association and DiGeorge syndrome (DGS) rarely occur together and only eight cases have been reported in the English literature. Two were associated with esophageal atresia (EA) and severe congenital heart anomalies. We report a third case of EA with tracheoesophageal fistula (EA-TEF) associated with coarctation of the aorta (CoA), CHARGE association, and DGS. The challenge for management in this complicated case is the background DGS which influences surgical outcome because of Ca++ imbalance and immune deficiency that can be life-threatening and require bone marrow transplantation.
Lee
Kyeong Deok
KD
Department of Pediatric General and Urogenital Surgery, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
Okazaki
Tadaharu
T
Kato
Yoshifumi
Y
Lane
Geoffrey J
GJ
Yamataka
Atsuyuki
A
D000015:Abnormalities, Multiple; D001017:Aortic Coarctation / Q000150:complications*; D002754:Choanal Atresia / Q000150:complications; D004062:DiGeorge Syndrome / Q000150:complications*; D004933:Esophageal Atresia / Q000150:complications*; D005837:Genitalia, Male / Q000002:abnormalities; D006130:Growth Disorders / Q000150:complications; D034381:Hearing Loss / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014138:Tracheoesophageal Fistula / Q000150:complications*