Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel mutation, and a concomitant heterozygous change in inherited from the mother.

We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenic variant.