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Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder

  • Authors: Schierz, Ingrid Anne Mandy; Amoroso, Salvatore; Antona, Vincenzo; Giuffre, Mario; Piro, Ettore; Serra, Gregorio; Corsello, Giovanni
  • Publication year: 2022
  • Type: Articolo in rivista
  • OA Link:


Congenital maxillomandibular syngnathia is a rare craniofacial anomaly leading to difficulties in feeding, breathing and ability to thrive. The fusion may consist of soft tissue union (synechiae) to hard tissue union. Isolated cases of maxillomandibular fusion are extremely rare, it is most often syndromic in etiology.