We describe a boy who has an anadysplasia-like spondylometaphyseal dysplasia. By whole exome sequencing he was shown to have compound heterozygous mutations of LBR that codes for the lamin B receptor. He shares many similarities with a case previously described, but in whom the early natural history could not be established [Borovik et al., 2013]. Thus, in addition to Greenberg dysplasia (a perinatal lethal disorder), homozygosity or compound heterozygosity of mutations in LBR can result in a mild, spontaneously regressing bone dysplasia.
Keywords: Pelger-Huet anomaly; bone dysplasia; lamin B receptor; metaphyseal dysplasia; phenotype-genotype correlation; spondylometaphyseal dysplasia; spontaneously remitting bone dysplasias; whole exome sequencing.
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