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Key Clinical Message  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  GNPTAB  variant. Molecular testing for autosomal recessive OI identified a  SERPINF1  variant.

clinical case reports

Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel  GNPTAB  mutation, and a concomitant heterozygous change in  SERPINF1  inherited from the mother