Dyggve Melchior Clausen Syndrome: A Case Report

Abstract

Dyggve-Melchior-Clausen syndrome (DMC) is a rare autosomal recessive skeletal dysplasia caused by mutations in the DYM gene, characterized by disproportionate short stature, intellectual disability, and specific radiographic anomalies (EI Ghouzzi et al., 2003, Lapierre et al., 2001). It is often misdiagnosed due to clinical similarities with Morquio syndrome and other skeletal dysplasias. This report presents a four-year-old female from a consanguineous union, evaluated for global developmental delay and growth retardation. Clinical findings included coarse facies, thoracic scoliosis, and short extremities. Radiographs revealed characteristic features such as platyspondyly and irregular iliac crests. Genetic analysis identified a homozygous pathogenic variant in the DYM gene, confirming the diagnosis. Differential diagnosis with mucopolysaccharidoses and Smith-McCort dysplasia was discussed. The importance of early diagnosis through clinical, radiological, and genetic correlation is emphasized to provide anticipatory care and genetic counseling. Although no curative treatment exists, a multidisciplinary approach can improve quality of life and functional outcomes. This case reinforces the diagnostic value of molecular genetics in rare dysplasias.