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Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis
Hanane Latrech1, Imane Skiker2, Yassamine Bentata3
1Department of Endocrinology, Medical School, University Mohamed First, Oujda, Morocco. hlatrech@hotmail.com
Abstract:
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.
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