RESUMO
Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder. It is a spondyloepimetaphyseal dysplasia associated with mental retardation. Clinical manifestations include coarse facies, microcephaly, short trunk dwarfism, and mental retardation. Mutations in Dymeclin gene (DYM), mapped to chromosome 18q21.1, is responsible for DMC. We report here the observation of a consanguineous Moroccan patient having DMC syndrome. The molecular studies showed a previously reported homozygous mutation at c.1878delA of DYM gene. We discuss this recurrent mutation in Moroccan patients with DMC syndrome with a review.
Assuntos
Criança , Consanguinidade , /diagnóstico , Nanismo/genética , Nanismo/diagnóstico por imagem , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico por imagem , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Deficiência Intelectual/diagnóstico por imagem , Masculino , Mutação/genética , Marrocos , Osteocondrodisplasias/congênito , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Osteocondrodisplasias/diagnóstico por imagem , PaisRESUMO
A rare case of disproportionate short stature suggestive of spondylo-epiphyseal dysplasia tarda is reported and relevant literature reviewed. It is emphasized that its radiological features show a marked similarity to ochronotic spine, with which it is therefore commonly mistaken. An indeterminate pigment was observed in the liver biopsy in this case with connective tissue disorder.