Klippel-Feil syndrome with associated agenesis of lung and gall bladder presenting with asthma and allergic rhinitis.
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.
Khanna
Puneet
P
Department of Respiratory Medicine, Vallabhbhai Patel Chest Institute, University of Delhi, India.
Panjabi
Chandramani
C
Shah
Ashok
A
D000015:Abnormalities, Multiple; D000328:Adult; D001249:Asthma / Q000175:diagnosis*; D002574:Cervical Vertebrae / Q000002:abnormalities*; D005704:Gallbladder / Q000196:embryology*; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000000981:diagnostic imaging*; D008168:Lung / Q000196:embryology*; D008297:Male; D011859:Radiography; D012221:Rhinitis, Allergic, Perennial / Q000175:diagnosis*