Síndrome oral-facial-digital: relato de um caso com anomalias do sistema nervoso central Oral-facial-digital syndrome: report of a case with abnormalities of the central nervous system
É relatado um caso de síndrome oral-facial-digital em paciente com anomalias do sistema nervoso central. Os autores fazem um revisão da literatura a procura de outros casos em que tais anomalias também estivessem presentes. A cariotipagem foi normal.<br>The case of a 3-month-old-female infant...
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
1974-06-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1974000200010 |
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| _version_ | 1849398939430682624 |
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| author | Gerson Carakushansky Aluizio H. de Andrade Machado |
| author_facet | Gerson Carakushansky Aluizio H. de Andrade Machado |
| author_sort | Gerson Carakushansky |
| collection | DOAJ |
| description | É relatado um caso de síndrome oral-facial-digital em paciente com anomalias do sistema nervoso central. Os autores fazem um revisão da literatura a procura de outros casos em que tais anomalias também estivessem presentes. A cariotipagem foi normal.<br>The case of a 3-month-old-female infant with oral-facial-digital malformations is reported. Ventriculogram disclosed widened lateral ventricles with lack of communication with the cisterna magna probably because of congenital defect in the formation of the aqueduct of Sylvius. There was communication with a porencephalic cyst present in the anterior fossa. A review of the literature indicates that porencephalies and hydrocephalus appear to be fairly common malformations associated with the OFD syndrome. Dermatoglyphic studies have shown an excess of whorl patterns on the digits. The karyotype was 46,XX. |
| format | Article |
| id | doaj-art-9fff6d727b4c4d6fa5f8f8a961588d86 |
| institution | Kabale University |
| issn | 0004-282X 1678-4227 |
| language | English |
| publishDate | 1974-06-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-9fff6d727b4c4d6fa5f8f8a961588d862025-08-20T03:38:27ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria0004-282X1678-42271974-06-01322152156Síndrome oral-facial-digital: relato de um caso com anomalias do sistema nervoso central Oral-facial-digital syndrome: report of a case with abnormalities of the central nervous systemGerson CarakushanskyAluizio H. de Andrade MachadoÉ relatado um caso de síndrome oral-facial-digital em paciente com anomalias do sistema nervoso central. Os autores fazem um revisão da literatura a procura de outros casos em que tais anomalias também estivessem presentes. A cariotipagem foi normal.<br>The case of a 3-month-old-female infant with oral-facial-digital malformations is reported. Ventriculogram disclosed widened lateral ventricles with lack of communication with the cisterna magna probably because of congenital defect in the formation of the aqueduct of Sylvius. There was communication with a porencephalic cyst present in the anterior fossa. A review of the literature indicates that porencephalies and hydrocephalus appear to be fairly common malformations associated with the OFD syndrome. Dermatoglyphic studies have shown an excess of whorl patterns on the digits. The karyotype was 46,XX.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1974000200010 |
| spellingShingle | Gerson Carakushansky Aluizio H. de Andrade Machado Síndrome oral-facial-digital: relato de um caso com anomalias do sistema nervoso central Oral-facial-digital syndrome: report of a case with abnormalities of the central nervous system Arquivos de Neuro-Psiquiatria |
| title | Síndrome oral-facial-digital: relato de um caso com anomalias do sistema nervoso central Oral-facial-digital syndrome: report of a case with abnormalities of the central nervous system |
| title_full | Síndrome oral-facial-digital: relato de um caso com anomalias do sistema nervoso central Oral-facial-digital syndrome: report of a case with abnormalities of the central nervous system |
| title_fullStr | Síndrome oral-facial-digital: relato de um caso com anomalias do sistema nervoso central Oral-facial-digital syndrome: report of a case with abnormalities of the central nervous system |
| title_full_unstemmed | Síndrome oral-facial-digital: relato de um caso com anomalias do sistema nervoso central Oral-facial-digital syndrome: report of a case with abnormalities of the central nervous system |
| title_short | Síndrome oral-facial-digital: relato de um caso com anomalias do sistema nervoso central Oral-facial-digital syndrome: report of a case with abnormalities of the central nervous system |
| title_sort | sindrome oral facial digital relato de um caso com anomalias do sistema nervoso central oral facial digital syndrome report of a case with abnormalities of the central nervous system |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1974000200010 |
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