Congenital Maxillomandibular Syngnathia: Review of Literature and Proposed New Classification System

Kumar, Vijay; Rattan, Vidya; Rai, Sachin

doi:10.1007/s12663-019-01308-8

Cited by 13 publications

(13 citation statements)

References 97 publications

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“…We have found that, even after a timely release, severe feeding difficulties due to unused fetal swallowing may persist beyond the neonatal age. 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 ].…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

“…Moreover, fusions in the context of polymalformative syndromes could not always be specified as a single entity. If the treatment is delayed, underdevelopment of mandible as well as extra-articular ankylosis of the temporomandibular joint may result [ 3 ].…”

Section: Introductionmentioning

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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“…It is a rare craniofacial disorder seen in infants, association with a number of syndromes, varying in severity from a single mucosal band (synechiae) to complete bony fusion (synostosis). Till date 118 [7] cases have been documented with the first case reported in 1936 by Burket et al [8] which was associated with congenital bony temporomandibular ankylosis, facial hemiatrophy and Horner's syndrome. Congenital syngnathia primarily affects mouth opening causing difficulty in feeding and respiration.…”

Section: Discussionmentioning

confidence: 99%

“…Congenital syngnathia primarily affects mouth opening causing difficulty in feeding and respiration. Only 8 combination cases of syngnathia and synechia present together have been reported [7].…”

Section: Discussionmentioning

confidence: 99%

Oromandibular limb hypogenesis syndrome: a singular variation of a rare syndrome: a case report

Sahoo

Rana

Semi³

et al. 2022

J Oral Med Oral Surg

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Background: A positive prenatal history of maternal fever has been found to express as a range of defects in infants including limb reduction, central nervous system defects, facial dysmorphogenesis and foetal death. Oromandibular limb hypogenesis syndrome is a rare spectrum of congenital disorders characterised by malformations of the tongue, mandible, maxilla and limbs. They present as sporadic cases with extremely low incidence and seldom occur with associated syngnathia. Syngnathia can manifest as fibrous, bony or in combination. Observation: Here we represent a rare case of Oromandibular limb hypogenesis syndrome type IV E with combination of syngnathia, cleft palate, retrognathia and hypoglossia-hypodactylomelia. An early surgical release of syngnathia was undertaken on having features of failure to thrive, high risk of aspiration and related complications due to enteral feeding. Conclusion: Delaying the surgical procedure could result in growth restriction and progressive ankylosis of the Temporomandibular joint (TMJ). It is essential to document the singular variant of Oromandibular limb hypogenesis syndrome (OLHS) to the medical literature.

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“…(53%) had a bony fusion, 48 (34%) had a fibrous fusion, and 8 (13%) had a combined fusion. 4 Several reviews have proposed additional classifications depending on the extent and site of fusion. The Olusanya classification system comprises three subtypes: Subtype a: Anterior fusion that does not extend beyond the canine region Subtype b: Posterior fusion that does not extend beyond the retromolar/retromaxillary region Subtype c: Fusion involving the ascending ramus/zygomatic complex In this review, type 1a accounted for 4.2% of all patients, type1b for 39.4%, and type 1c for 7.0%.…”

Section: Accepted Manuscriptmentioning

confidence: 99%

Congenital Maxillomandibular Synechia with Multiple Malformations in a Very-Low-Birth-Weight Infant: A Case Report

Uchi

Koto

Nakao

et al. 2023

AJP Rep

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Congenital maxillomandibular synechia is a rare malformation that is characterized by a fusion of the maxilla and mandible. The fusion is fibrous or bony and prevents mouth opening, which causes difficulties in feeding and occasionally in breathing. Although extremely rare, neonatologists must understand the disease because it can be fatal and require emergency treatment after birth. We report the case of a very-low-birth-weight (VLBW) infant with congenital maxillomandibular synechia and other malformations, including cleft palate, syndactyly, and cryptorchidism. The patient presented with extremely limited mouth opening, and endotracheal intubation seemed impossible; fortunately, the patient did not have respiratory distress syndrome. The patient underwent surgical release of the fibrous bands on days 10 and 17, and good mouth opening was achieved. The patient was able to consume breast milk orally and was discharged home at a corrected gestational age of 1 month without recurrence of difficulty in mouth opening or any sequelae. This is the first reported case of a VLBW infant with congenital maxillomandibular synechia who required more complicated management of feeding, surgical intervention, and anesthesia.

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Congenital Maxillomandibular Syngnathia: Review of Literature and Proposed New Classification System

Cited by 13 publications

References 97 publications

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

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

Oromandibular limb hypogenesis syndrome: a singular variation of a rare syndrome: a case report

Congenital Maxillomandibular Synechia with Multiple Malformations in a Very-Low-Birth-Weight Infant: A Case Report

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