A new phenotype of Kartagener's syndrome: An interesting case report

Abstract

Kartagener's syndrome (KS) is Primary Ciliary Dyskinesia, autosomal recessive disorder characterised by triad of situs inversus of viscera, sinusitis, bronchiectasis due to ciliary dysfunction. Primary ciliary dyskinesia - retinitis pigmentosa syndrome is an X-linked ciliary dysfunction of respiratory epithelium and photoreceptors of retina leading to ocular disorders associated with chronic bronchiectasis, sinusitis and. sensorineural hearing loss. Here we present one such case of Kartagener's syndrome with Retinitis Pigmentosa (RP) which was also associated with Retinal Detachment (RD) in short stature individual reported for the first time, to the best of our knowledge which could be a new phenotypic presentation in Primary Ciliary Dyskinesia.