Mutations in CHST3 have been previously reported to be associated with a rare phenotype of skeleton dysplasia, known as Spondyloepiphyseal dysplasia with congenital joint dislocations which is an autosomal recessive inherited disease.[2] Here we reported 1 patient with APL with complex heterozygous mutations on CHST3. Further confirmation showed that mutations were from her parents, respectively. This evidence concerns the gene CHST3 and spondyloepiphyseal dysplasia.