LACHT syndrome with renal agenesis: A case report

Abstract

LACHT syndrome is characterized by pulmonary agenesis, congenital cardiac defects, and thumb anomalies. It was first described by Mardini and Nyhan in 1985 in four distinct families. There have been 11 cases in the literature with varying abnormalities. It has an autosomal recessive inheritance pattern. We present a case with pulmonary agenesis, pulmonary artery agenesis, subarterial ventricular septal defect (VSD), and ipsilateral upper limb and thumb anomaly on the left; and distinct from every single case in the literature; renal agenesis on the right.