Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Mais filtros











Base de dados
Tipo de estudo
Intervalo de ano de publicação
1.
Cleft Palate Craniofac J ; 60(12): 1655-1658, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-35945817

RESUMO

Congenital tumors of the oral cavity are infrequent and is dominated by teratogenic tumors. They are rarely associated with cleft palate. Congenital lipoma of the palate in patients with cleft palate remains exceptional. We report a case of congenital septal lipoma with cleft palate (the third case of such association is reported in the literature) and discuss the surgical treatment in light of the evolution of the patient.


Assuntos
Fenda Labial , Fissura Palatina , Lipoma , Humanos , Fissura Palatina/cirurgia , Fissura Palatina/complicações , Lipoma/diagnóstico por imagem , Fenda Labial/complicações
2.
Indian J Hum Genet ; 17(2): 97-9, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-22090722

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.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA