CHST3 and autosomal recessive disease: Mutations in CHST3 gene have been associated with skeleton dysplasia, which is an autosomal recessive inherited disease, primarily among patients with short stature, joint dislocation, and kyphoscoliosis.[2] Other associated phenotypes include microdontia and cardiac valve anomalies.[2,5] Our patient was found to be with short stature, while without joint dislocation, kyphoscoliosis, or microdontia.