Detection of Spondyloepiphyseal Dysplasia Phenotype with CHST3 Mutation in an Asian Indian Family and Outcomes of Index and Subsequent Pregnancy

Abstract

Abstract CHST3-related skeletal dysplasia is an autosomal recessive disorder with a prenatal onset. Variations in the CHST3 gene are associated with spondyloepiphyseal dysplasia with short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; postnatal limitation of range of motion of large joints; and progressive kyphosis, occasional scoliosis and minor heart valve dysplasia. The identification of pathogenic variants in the family is helpful for carrier and prenatal testing. We describe the prenatal identification of spondyloepiphyseal dysplasia with CHST3 mutation in the index pregnancy of an Asian Indian woman and the outcome of the subsequent pregnancy.