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.

Schierz, I.A.M., Amoroso, S., Antona, V., Giuffre, M., Piro, E., Serra, G., et al. (2022). Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder. THE ITALIAN JOURNAL OF PEDIATRICS, 48(1), 132 [10.1186/s13052-022-01330-6].

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

Schierz, Ingrid Anne Mandy
Primo
;
Antona, Vincenzo;Giuffre, Mario;Piro, Ettore;Serra, Gregorio
Penultimo
;
Corsello, Giovanni
Ultimo
2022-07-29

Abstract

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.
Schierz, I.A.M., Amoroso, S., Antona, V., Giuffre, M., Piro, E., Serra, G., et al. (2022). Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder. THE ITALIAN JOURNAL OF PEDIATRICS, 48(1), 132 [10.1186/s13052-022-01330-6].
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10447/566165
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