DOI: 10.36347/sjmcr.2023.v11i12.003

Pages: 2079-2082

Dyggve Melchior Clausen syndrome is an autosomal recessive osteochondrodysplasia characterized by the association of staturo-ponderal retardation, spondylometaphyseal dysplasia and mental retardation. The aim of the study is to describe clinical, radiological and biochemical findings. Our patient is a 10 years old boy, thirth child of consanguineous parents presented with failure to thrive and mental retardation. He had short trunk, protruding sternum. Radiographs show generalized platyspondyly, double vertebral humps and «beardlike» or «lacelike» iliac crests. Dyggve Melchior Clausen syndrome is a rare skeletal dysplasia. The diagnosis is made by radiology that shows characteristic signs. Prognosis is dominated by mental retardation and motor disability. The treatment is symptomatic hence the value of genetic counselling.