Congenital maxillomandibular syngnathia: Case report

Parkins, Grace; Boamah, Matthew Owusu

doi:10.1016/j.jcms.2009.01.001

Cited by 23 publications

(22 citation statements)

References 12 publications

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“…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

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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.

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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

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“…Maxillomandibular synostosis is usually diagnosed immediately after birth as the baby is not able to open the mouth or feed normally (Daniels, 2004). Temporomandibular joint ankylosis with the presence of narrow gaps can make it difficult to keep the infant stable and often requires a tracheostomy under general anaesthesia (Parkins and Boamah, 2009). Soft tissue adhesions are more common than bony adhesions, but division of both types is associated with excellent outcomes as the temporomandibular joints and muscles of mastication are usually normal (Pillai et al, 1990).…”

Section: Introductionmentioning

confidence: 99%

A case of syngnathia, cleft palate and hypospadias: An isolated case or syndromic syngnathism?

Turksen¹,

Ozakpinar

Tellioğlu

2012

Journal of Cranio-Maxillofacial Surgery

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“…6 It was first reported by Burket in 1936. 7 It can vary in severity from single mucosal bands (synechiae) to complete bony fusion (synostosis), which is less common than synechiae. 3 Although synechiae may be present in isolation, it is often found along with syndromes 1 such as congenital alveolar synechiae syndrome, Van der Woude syndrome, popliteal pterygium syndrome, cleft palate lateral synechia syndrome, and Fryns syndrome.…”

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confidence: 99%

“…8 Congenital bony fusion of the jaws (bony syngnathia) is said to be a rare isolated occurrence. 7 It results from fusion between the maxilla or zygoma and the mandible, 2 or fusion of the mandible to temporal bone. 6 Fusion of the alveolar ridges of the mandible and maxilla is reported more commonly than fusion of the ascending rami of the mandible to the posterior area of the maxilla and zygomatic complex.…”

mentioning

confidence: 99%

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

Al-Mahdi

Koppel

Al‐jumaily

et al. 2016

Journal of Craniofacial Surgery

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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.

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Congenital maxillomandibular syngnathia: Case report

Cited by 23 publications

References 12 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

A case of syngnathia, cleft palate and hypospadias: An isolated case or syndromic syngnathism?

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

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