Congenital Syngnathia; Turmoils and Tragedy

Sarin, Yogesh Kumar; Raj, Prince; Arya, Mona; Dali, Jaspal Singh

doi:10.21699/jns.v6i1.402

Cited by 2 publications

(1 citation statement)

References 9 publications

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“…If the treatment is delayed, underdevelopment of mandible as well as temporomandibular joint disorders and oral-motor dysfunctions may deteriorate significantly [ 3 ]. On the other hand, bypassing oral nutrition by nasogastric tube or even by gastrostomy without release of syngnathia is dangerous, due to the impossibility to intervening in case of aspiration of gastric contents and the impossibility to detect possible associated malformations like oral clefts, smaller lower pharyngeal airways [ 9 ], tracheoesophageal fistulae or severe gastrointestinal anomalies, among others [ 8 , 10 , 11 ]. However, in rare mild cases the synechiae have been preserved for use as a flap during surgical palatal closure [ 12 ], also because there are scarring problems in some patients and other palatal reconstruction techniques may need revisions [ 13 , 14 ].…”

Section: Discussionmentioning

confidence: 99%

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

Schierz¹,

Amoroso

Antona³

et al. 2022

Ital J Pediatr

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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 abnormities (synechiae, cleft palate, craniofacial dysmorphisms, dental anomaly) and extraoral malformations (skinfold overlying the nails of both halluces, syndactyly, abnormal external genitalia) is presented. The associated malformations addressed to molecular genetic investigations revealing an interferon regulatory factor 6 (IRF6)-related disorder (van der Woude syndrome/popliteal pterygium syndrome). A novel de novo heterozygous mutation in exon 4 of IRF6 gene on chromosome 1q32.2, precisely c.262A > G (p.Asn88Asp), was found. Similarities are discussed with known asparagine missense mutations in the same codon, which may alter IRF6 gene function by reduced DNA-binding ability. A concomitant maternal Xp11.22 duplication involving two microRNA genes could contribute to possible epigenetic effects. Conclusions Our reported case carrying a novel mutation can contribute to expand understandings of molecular mechanisms underlying synechiae and orofacial clefting and to correct diagnosing of incomplete or overlapping features in IRF6-related disorders. Additional multidisciplinary evaluations to establish the phenotypical extent of the IRF6-related disorder and to address family counseling should not only be focused on the surgical corrections of syngnathia and cleft palate, but also involve comprehensive otolaryngologic, audiologic, logopedic, dental, orthopedic, urological and psychological evaluations.

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