LACHT syndrome with branchial cyst in a female infant; case report and review of literature

Abstract

Lung agenesis is a rare congenital malformation. The combination of lung agenesis, congenital heart defects, and thumb anomalies characterizes LACHT syndrome, an extremely rare condition with an unclear genetic basis. To date, only 15 cases have been reported in the literature. We report a new case of LACHT syndrome and review previously published cases of this rare association. Our patient was a three-month-old female infant who presented with the typical features of LACHT syndrome and an associated ipsilateral branchial cleft cyst, which has not been previously reported in patients with this syndrome. This previously unreported association expands the clinical spectrum of LACHT syndrome and highlights the importance of careful evaluation for additional congenital anomalies in affected patients.