22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring.

Autor: Nguyen, Linda T., Fleishman, Rachel, Flynn, Emilee, Prasad, Rajeev, Moulick, Achintya, Mesia, Cesar Igor, Moyer, Sue, Jethva, Reena
Předmět:
Zdroj: Clinical Case Reports; Mar2017, Vol. 5 Issue 3, p351-356, 6p
Abstrakt: Key Clinical Message This case report describes a patient with a 22q11.2 duplication. His features, which include VACTERL association with an esophageal atresia/tracheo-esophageal fistula and a vascular ring, expand the previously described phenotype for this duplication. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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