A Rare Presentation of Polygenic Inheritance Manifesting As Congenital Rubella Syndrome: A Case Report

Abstract

Many traits and phenotypic characteristics present in the human body such as height, skin, pigmentation, hair, and eye color are inherited through many alleles present in different loci. This is known as polygenic inheritance. Congenital rubella syndrome (CRS) is a rare disease characterized by congenital deformities such as chorioretinitis and cataracts. This disease is endemic in India, and it is mainly caused by the rubella virus. We report a case of a 4.5-year-old female child who presented with breathlessness and radiolucent bone disease, for which she was already undergoing surgical interventions. The cell culture line was positive for rubella. The patient was treated with oxygen therapy via continuous positive airway pressure (CPAP) and had a moderate biventricular function.