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Article

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

Italian journal of pediatrics - 29 Jul 2022

Schierz Ingrid Anne Mandy, Amoroso Salvatore, Antona Vincenzo, Giuffrè Mario, Piro Ettore, Serra Gregorio, Corsello Giovanni

Abstract excerpt

BACKGROUND: 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. CASE PRESENTATION: Clinical management of a female newborn with oromaxillofacial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35906647
DOI: 10.1186/s13052-022-01330-6
PMCID: PMC9338470

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