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

Resumos

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.


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.


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

Gerson CarakushanskyI; Aluizio H. de Andrade MachadoII

IProfessor-Adjunto e Chefe do Setor de Genética do Instituto de Puericultura da Universidade Federal do Rio de Janeiro

IINeurocirurgião do Hospital de Ipanema do INPS - GB

RESUMO

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.

SUMMARY

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.

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Setor de Genética — Instituto de Puericultura da U.F.R.J. — Av. Brigadeiro Trompowsky — Ilha Universitária — 20000 Rio de Janeiro. GB — Brasil.

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Datas de Publicação

  • Publicação nesta coleção
    16 Abr 2013
  • Data do Fascículo
    Jun 1974
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