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
Dyggve–Melchior–Clausen syndrome is a rare autosomal-recessive disorder, characterized by progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation. The clinical and radiological findings resembles Morquio disease at the onset of condition, which may hinder its diagnosis. Two siblings with chatacteristic clinical (progressive postnatal dwarfism and mental retardation) and radiological features (irregular lace-like appearance of the iliac crests) are reported.