Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations

Broome, Martin; Vial, Yvan; Jacquemont, Sébastien; Sergi, Consolato; Kamnasaran, Deepak; Giannoni, Éric

doi:10.1016/j.pedneo.2013.04.009

Cited by 21 publications

(9 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…On the other hand, augmentation of BMP4-mediated signaling in CNC cells leads to a much severe phenotype, synostosis or bony syngnathia. Besides synostosis, Wnt1Cre;pMes-Bmp4 mice also exhibit a series of craniofacial defects, including cleft palate and hypoplastic maxilla and mandible, which are also observed in patients carrying syngnathia (Broome et al, 2013; Knoll et al, 2000; Parkins and Boamah, 2009). These studies demonstrate that dysregulated BMP signaling or its downstream targets could lead to both synachiae and synostosis, making components of BMP signaling pathway candidate genes for such human congenital disease.…”

Section: Discussionmentioning

confidence: 99%

Directed Bmp4 expression in neural crest cells generates a genetic model for the rare human bony syngnathia birth defect

Xiong

et al. 2014

Developmental Biology

View full text Add to dashboard Cite

Congenital bony syngnathia, a rare but severe human birth defect, is characterized by bony fusion of the mandible to the maxilla. However, the genetic mechanisms underlying this birth defect are poorly understood, largely due to limitation of available animal models. Here we present evidence that transgenic expression of Bmp4 in neural crest cells causes a series of craniofacial malformations in mice, including a bony fusion between the maxilla and hypoplastic mandible, resembling the bony syngnathia syndrome in humans. In addition, the anterior portion of the palatal shelves emerged from the mandibular arch instead of the maxilla in the mutants. Gene expression assays showed an altered expression of several facial patterning genes, including Hand2, Dlx2, Msx1, Barx1, Foxc2 and Fgf8, in the maxillary and mandibular processes of the mutants, indicating mis-patterned cranial neural crest (CNC) derived cells in the facial region. However, despite of formation of cleft palate and ectopic cartilage, forced expression of a constitutively active form of BMP receptor-Ia (caBmprIa) in CNC lineage did not produce the syngnathia phenotype, suggesting a non-cell autonomous effect of the augmented BMP4 signaling. Our studies demonstrate that aberrant BMP4-mediated signaling in CNC cells leads to mis-patterned facial skeleton and congenital bony syngnathia, and suggest an implication of mutations in BMP signaling pathway in human bony syngnathia.

show abstract

Section: Discussionmentioning

confidence: 99%

Directed Bmp4 expression in neural crest cells generates a genetic model for the rare human bony syngnathia birth defect

Xiong

et al. 2014

Developmental Biology

View full text Add to dashboard Cite

show abstract

“…Syngnathia is a rare human congenital condition. It involves connection between soft tissues or fusion between bony tissues and varies in severity from single mucosal bands (synechiae) to complete bone fusion (synotosis)[2]. Syngnathia is often accompanied by additional congenital defects, such as microglossia, micrognathia, and TMJ abnormalities.…”

Section: Discussionmentioning

confidence: 99%

“…The etiology and pathogenesis of syngnathis remain unknown, and it is an extremely rare condition involving abnormal development of the splanchnocranium, which is the part of the skull that is derived from the branchial arches[2]. Various etiologies have been proposed, including environmental insults, medications such as meclizine, persistence of the buccopharyngeal membrane, and amniotic constriction bands[5,6].…”

Section: Discussionmentioning

confidence: 99%

Application of computer-assisted navigation in treating congenital maxillomandibular syngnathia: A case report

Lin¹,

Bai²,

Wei³

2019

WJCC

View full text Add to dashboard Cite

BACKGROUND Congenital maxillomandibular syngnathia is an extremely rare disorder characterized by craniofacial malformations and inability to open the mouth adequately, which leads to problems with feeding, swallowing, and breathing as well as temporomandibular joint ankylosis. The main goal of the surgery is to release the ankylosis, establish functioning mandible, and prevent re-fusion. However, surgical procedures for this disease are rarely reported. CASE SUMMARY Here, we report a 7-mo-old girl with bilateral maxillomandibular syngnathia. The patient presented with difficulty in feeding, breathing, sounding, and swallowing and had developmental dysplasia. For treatment, we performed bone isolation by computer-assisted navigation and used silicone to fix the wound surface to prevent refusion of bone. To our knowledge, this is the only syngnathia case in the literature treated using computer-assisted navigation. With the guidance of precise navigation, we were able to minimize operation time by at least one hour, the patient's blood vessels, nerves, and tooth germs were well protected, and excessive bleeding was avoided. After six weeks, the patient showed improvement in mouth opening and no major issues of feeding. CONCLUSION Application of computer-assisted navigation can significantly improve accuracy, effectiveness, and surgical safety in correcting congenital maxillomandibular syngnathia.

show abstract

“…The thickness and structure of the skin and the nature of the subcutaneous tissue have a significant role in the degree of projection in the nasal tip. 2 There is a good apothegm, ''the nose follows the tip'' which remains valid. The author needs 3 essential reoperative identifications for the surgeon's meticulous technical plan for the tip surgery: to ensure adequate tip projection, to improve sufficient cephalical rotation of the lateral alar cartilages (malposition), and to decide on the graft material (cartilage or composite graft) that will be used as a tip graft.…”

Section: Ilteris Murat Emsen MD Phdmentioning

confidence: 99%

Congenital Bilateral Zygomatico-Maxillo-Mandibular Fusion Associated With Gum Fusion

Al-Mahdi

Koppel

Al‐jumaily

et al. 2016

Journal of Craniofacial Surgery

View full text Add to dashboard Cite

A congenial syngnathia is very rare condition. It can be simple mucosal fusion (synechiae), or complete bony fusion (synostosis) between the maxilla or zygoma and the mandible. Fusion of the ascending ramus of mandible to maxilla and zygoma is less common than fusions of the alveolar ridges of the mandible to the maxilla. Bony syngnathia is either isolated or complex in form. There are 59 cases of congenital bony syngnathia reported in the literature: the first report was by Burket in 1936. There are 16 reported cases of zygomatico-maxillo-mandibular fusion. In the reported cases, women expressed the isolated form more commonly whereas men demonstrated a more complex pattern of disease. The authors present another patient of bony syngnathia involving bilateral fusion of the ascending ramus and body of the mandible with the maxillary complex in a young man. Early surgery was performed to release the bony and soft tissue fusion on the eighth day from the baby's birth. A second operation was performed for recurrence when the baby was 2.5 months old. A customized splint, an intense postoperative program of mouth exercises, and close follow-up aims to prevent further refusion.

show abstract

Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations

Cited by 21 publications

References 10 publications

Directed Bmp4 expression in neural crest cells generates a genetic model for the rare human bony syngnathia birth defect

Directed Bmp4 expression in neural crest cells generates a genetic model for the rare human bony syngnathia birth defect

Application of computer-assisted navigation in treating congenital maxillomandibular syngnathia: A case report

Congenital Bilateral Zygomatico-Maxillo-Mandibular Fusion Associated With Gum Fusion

Contact Info

Product

Resources

About