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definition - syndrome de goldenhar

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synonyms - syndrome de goldenhar

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Wikipedia

Syndrome de Goldenhar

                   

Le Syndrome de Goldenhar ou dysplasie oculo-auriculo-vertébrale est un ensemble de malformations touchant essentiellement l'appareil auditif, l'appareil oculaire et le squelette, associées à un retard mental.

Sommaire

  Étiologie

Il s'agit d'un défaut de développement atteignant le premier et le second arc branchiaux. Il associe des malformations de la face et des oreilles. Chez l'homme, les arcs branchiaux correspondent, au cours du développement de l'embryon (embryologie), à ce qui va devenir les régions correspondant aux faces latérales de la tête et du cou (mâchoire, oreille, etc…). Une anomalie de ce développement au cours de la grossesse occasionne les malformations visibles lors du syndrome de Goldenhar.

  Symptômes

Il existe plusieurs degrés d'atteinte, les patients n'ont pas forcément tous les signes. Cette maladie est génétique et de transmission autosomique dominante bien que la plupart des cas connus soient sporadiques.

  Retard mental

  Anomalies du visage

  Anomalies du tronc

  • Cardiopathie congénitale ou malposition cardiaque avec aplasie ou hypoplasie pulmonaire
  • Malformations de l' appareil urinaire et des organes génitaux externes
  • Aplasie d'une glande mammaire (un sein plus gros que l'autre)

  Anomalies du squelette

  Liens externes

   
               

 

All translations of syndrome de goldenhar


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