LRRK1 and osteosclerotic metaphyseal dysplasia: Whole Exome Sequencing (WES) followed by Sanger sequencing, identified a novel homozygous <i>LRRK1</i> c.2506C>T p. (Gln836Ter) nonsense variant predicted to result in premature truncation of LRRK1 transcript.<h4>Conclusion</h4>Our cases confirm the autosomal recessive inheritance and expand the spectrum of genotype and phenotype of OSMD reported in the literature.