Klippel-Feil syndrome with associated agenesis of lung and gall bladder presenting with asthma and allergic rhinitis

Abstract

Klippel-Feil syndrome (KFS), a triad of short neck, limitation of neck movement and low posterior hairline, is characterized by presence of congenitally fused cervical vertebrae and is often associated with multiple congenital anomalies. A 35-year-old male was referred for evaluation of an 'opaque hemithorax'. This led to a diagnosis of KFS, agenesis of left lung and gall bladder. The patient had history of wheezing dyspnea with nasal symptoms, which were diagnosed as asthma and allergic rhinitis. A high index of suspicion is required to recognize such a patient, and efforts should be made to seek other congenital anomalies.