UNASSIGNED: Congenital maxillomandibular fusion is a rare disorder. Maxillomandibular fusion is usually discovered immediately after birth because the newborn is unable to open mouth or feed normally. The fusion defects can present with a wide range of severity, ranging from mucosal band (synechiae) to complete bony fusion (syngnathia).
UNASSIGNED: We report a case of congenital alveolar synechiae with posterior cleft palate in a 3-day-old male neonate. The newborn was managed with the help of a multi-disciplinary approach.
UNASSIGNED: Fusion of the gums is a very rare congenital anomaly. Early division of fibrous bands not only allows effective feeding but also prevents the development of facial deformities. However, anesthesia for this procedure can be challenging.

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.
METHODS: 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.

This case describes the treatment of syngnathia with a popliteal-pterygium syndrome. Although short-term successful surgical treatment has been described in literature, long-term follow up is essential, as the mouth opening limitations can be repetitively reoccurring. This requires new, individual treatment strategies as demonstrated in this case. A young patient is shown, who is successfully undergoing an alloplastic temporomandibular joint replacement to improve mouth opening, increasing the posterior airway space and facilitating the food intake.

Asymmetries in craniofacial anomalies are commonly observed. In the facial skeleton, the left side is more commonly and/or severely affected than the right. Such asymmetries complicate treatment options. Mechanisms underlying variation in disease severity between individuals as well as within individuals (asymmetries) are still relatively unknown.
Developmental reductions in fibroblast growth factor 8 (Fgf8) have a dosage dependent effect on jaw size, shape, and symmetry. Further, Fgf8 mutants have directionally asymmetric jaws with the left side being more affected than the right. Defects in lower jaw development begin with disruption to Meckel\'s cartilage, which is discontinuous. All skeletal elements associated with the proximal condensation are dysmorphic, exemplified by a malformed and misoriented malleus. At later stages, Fgf8 mutants exhibit syngnathia, which falls into two broad categories: bony fusion of the maxillary and mandibular alveolar ridges and zygomatico-mandibular fusion. All of these morphological defects exhibit both inter- and intra-specimen variation.
We hypothesize that these asymmetries are linked to heart development resulting in higher levels of Fgf8 on the right side of the face, which may buffer the right side to developmental perturbations. This mouse model may facilitate future investigations of mechanisms underlying human syngnathia and facial asymmetry.

Congenital fusion of the jaws (syngnathia) is a rare facial malformation with an unknown etiology. This disease may vary in severity with adhesion of soft tissue and bony fusion. It can be anterior fusion, unilateral or bilateral fusion, and complete fusion. The main problem of these patients is the difficulty of airway maintenance and feeding, and the most common postoperative complication is the relapse of bony fusion. Here, we report a young male patient with bony syngnathia, involving bilateral fusion of the ascending ramus and body of the mandible with the maxillary complex. We performed bone isolation by computer-assisted preoperative planning and used an insertional temporalis flap to fix the wound surface to prevent refusion of bone.

Neural crest cells (NCCs) within the mandibular and maxillary prominences of the first pharyngeal arch are initially competent to respond to signals from either region. However, mechanisms that are only partially understood establish developmental tissue boundaries to ensure spatially correct patterning. In the \'hinge and caps\' model of facial development, signals from both ventral prominences (the caps) pattern the adjacent tissues whereas the intervening region, referred to as the maxillomandibular junction (the hinge), maintains separation of the mandibular and maxillary domains. One cap signal is GATA3, a member of the GATA family of zinc-finger transcription factors with a distinct expression pattern in the ventral-most part of the mandibular and maxillary portions of the first arch. Here, we show that disruption of Gata3 in mouse embryos leads to craniofacial microsomia and syngnathia (bony fusion of the upper and lower jaws) that results from changes in BMP4 and FGF8 gene regulatory networks within NCCs near the maxillomandibular junction. GATA3 is thus a crucial component in establishing the network of factors that functionally separate the upper and lower jaws during development.

BACKGROUND: Maxillomandibular sygnathia is a rare and severe craniofacial deformity defined by gingival mucosal fusion (synechia) or bony fusion (synostosis).
METHODS: We will present a case of complete closure of the mouth since birth from eastern Morocco treated in our department of maxillofacial surgery at the University Hospital of Casablanca. The patient was referred after two months by the pediatrician of the provincial hospital and following the placement of a nasogastric tube. On admission, she presented with facial dysmorphosis, signs of malnutrition with closure of the mouth and fusion of both gums with pro-alveoli and retromandibulia. CT scan with 3D reconstruction confirmed maxillomandibular synostosis. 5 days later, she underwent a fixed mucosal incision with osteotomy at the maxillomandibular joints with early and prolonged active physical therapy. The evolution was marked by the recurrence of mouth closure, the little girl was operated a second time and then she died by a mucous plug at the level of her tracheostomy cannula during resuscitation.
CONCLUSIONS: Maxillomandibular sygnathia is a very rare pathology whose origin remains unknown. Very few cases published in the literature.
CONCLUSIONS: The therapeutic difficulties encountered outside the ideal age of the operation and the management of recurrences were also linked to socio-economic factors making it difficult to ensure adequate postoperative follow-up.

We report a full-term male neonate found to have undiagnosed syngnathia requiring extensive resuscitation at birth followed by urgent tracheostomy. We conducted a systematic literature review to study the presentation, resuscitation methods, and outcomes of neonates with congenital syngnathia. Of the 174 cases reported to date, 91 had initial resuscitation data available. Extensive resuscitation was required in 16 of these 91 infants (18%). This ranged from nasal intubation to emergent tracheostomy. These neonates are potentially higher risk deliveries for which methods in addition to those recommended by the American Heart Association neonatal resuscitation guidelines may be needed.

OBJECTIVE: Maxillomandibular fusion (syngnathia) is a rare craniofacial anomaly. It occurs as either fibrous (synechiae) or bony (synostosis) fusion of jaw or fusion of mandible to zygoma, tuberosity, hard palate and temporal bone. There are several documentations delineating this condition but owing to its varying presentation, association with both intraoral and extraoral anomalies and syndromes, reviewing it has been as uphill task. The non-unanimous description of cases in the literature and the use of different nomenclatures make it difficult to classify this condition.
METHODS: Extensive search of the literature was done from the year 1936 to 2018 which included a total of 118 cases with 62 cases of bony fusion, 48 cases of fibrous fusion and 8 cases of combined fusion, i.e., fibrous on one site and bony on another side.
RESULTS: This paper proposes a novel, simple and explicit classification system on the basis of nature of fusing tissues, location and extent, association with syndrome after reviewing the existing literature. Furthermore, this review reports 4 new cases of syngnathia along with their clinical, radiographic features and their management protocol.
CONCLUSIONS: This classification can be generalized to all the cases of syngnathia and can further facilitate in its appropriate diagnosis and treatment plan.

This study aimed to reconstruct the dietary behavior of two early medieval individuals who display gnathic malformation.
Two skeletons affected by temporomandibular ankylosis were analyzed, one from the Great Moravian burial site of Rajhradice (9th century AD, Czech Republic), and the other from the Avar burial site of Schӧnkirchen (8th century AD, Austria).
Carbon and nitrogen isotopic values were measured from the bone collagen of both individuals. In the Rajhradice case, where the childhood origin of ankylosis is deduced, isotopic analysis of dentine sections was performed.
Both individuals show isotopic values within the range of variation of a contemporaneous population sample. There was no observable dietary change in the Rajhradice individual that could be linked to the occurrence of ankylosis.
Both individuals consumed diets typical for their populations. They appear to not have restricted access to foodstuffs, namely animal protein, which would likely have had to be served in liquid (e.g. milk) or in a highly mashed form to compensate for insufficient mastication.
This finding provides specific evidence of care provided to these two afflicted members of past populations.
Though the proportion of animal protein is an important indicator of the quality of diet, many other aspects of diet - such as micronutrient content - elude stable isotope analysis.
Amino acid compound specific isotope analyses of collagen would provide deeper insight into both the diet and physiology of the affected individuals.