Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

摘要: Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, is a rare autosomal recessive disorder of the skeleton characterized by disproportionate stature with narrow chest and dysmorphic facial features. The skeletal manifestations include platyspondyly, flared ribs, tubular bones abnormal metaphyses epiphyses, severe brachydactyly, premature stippled calcifications in cartilage. are so distinctive as to point definitive diagnosis. However, they may be too subtle attract diagnostic attention infancy. Homozygous variants DDR2 cause this disorder. We report on 5-year-old girl classic phenotype SMED, SL-AC whom novel homozygous nonsense mutation was detected using exome sequencing.