VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report

Surasak PuvabanditsinPediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USACorrespondence[email protected]

James Van GurpPathology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA

Melissa FebruaryPediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA

Marwa KhalilPediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA

Julia MaynePediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA

Jennifer Ai McConnellPediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA

Rajeev MehtaPediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA

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Abstract

We report a term female neonate with vertebral anomalies, anal and urethral atresia, esophageal atresia with tracheoesophageal fistula (TEF), renal agenesis, pulmonary hypoplasia, genital and sacral appendages, and a single umbilical artery. Genetic studies revealed a 20.91 Mb interstitial deletion of the long arm of X chromosome: Xq25-q27.3. This is a new case of VATER/VACTERL association with Xq25 microdeletion.

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VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report

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VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report

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