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Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome - A Case Report.
J Orthop Case Rep
August 2021
Department of Orthopaedics, Grant Goverment Medical College and Sir JJ Group of Hospitals Mumbai, Maharashtra. India.
Introduction: Dyggve-Melchior-Clausen (DMC) syndrome was described in 1962 as an autosomal recessive type of spondyloepimetaphyseal dysplasia associated with mental retardation. Dymeclin (DYM) gene on chromosome 18q12.1 that encodes for DYM protein which is expressed in cartilage, bone, and brain is mutated in DMC.
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