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
Frank-Ter Haar Syndrome [FTHS] is a rare hereditary inherited disorder with many abnormalities. The main clinical features are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, congenital heart defects, kyphoscoliosis, skeletal dysplasia, developmental delay, coccygeal skin folds and flexion deformity of the fingers. This case report describes Frank-Ter Haar syndrome in a 4 months old girl suffering from club foot, dysmorphism, prominent coccyx with skin fold, atrial septal defect, patent ductus asteriosus and megalocornea