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Pierre Robin Syndrome  

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Tipo

  • mesh:Descriptor

Definición

  • Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.

Concepto genérico

Etiquetas alternativas

  • Glossoptosis, Micrognathia, and Cleft Palate
  • Pierre Robin Sequence
  • Pierre Robin's Sequence
  • Pierre-Robin Syndrome
  • Robin Sequence

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-K8F3PRW2-Q

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