[Dyggve-Melchior-Clausen disease case report and review of literatures]

ABSTRACT

Dyggve-Melchior-Clausen [DMC] disease is a rare autosomal recessive spondyloepimetaphyseal dysplasia. The main features are short trunk dwarfism, short limbs, and mental retardation. Radiographs show characteristic abnormalities of the spine, epiphyses and metaphyses. Mutation in DMC gene has been found. A 15 year old boy referred to our genetic center with short trunk dwarfism, short limbs, characteristic radiographic findings and mental retardation. His parents are first cousin. He has three affected uncle with same features. We believe our patient is a new xase of Dyggve-Melchrior-Clausen disease