Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis.

Dyggve-Melchiore-Clausen (DMC) syndrome is a are autosomal recessive spondyloepimetaphyseal dysplasia associated with mental retardation resulting from mutations in the Dymeclin (DYM) gene mapped in the 18q12-12.1 chromosomal region. We report a case of a consanguineous Moroccan boy with this disease confirmed by the presence of homozygous mutation at c.1878delA of DYM gene. Our patient additionally has a micropenis. We discuss the clinical severity, difficult management of this syndrome and its association with micropenis never described before in the literature.