Journey to chew: A case of maxillary duplication and bony syngnathia

Patel, Shitel; Porras, Susana; Lypka, Michael

doi:10.1016/j.jcms.2014.10.010

Cited by 10 publications

(4 citation statements)

References 16 publications

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“…Our typical phenotype of distally shifted MMJ and decreased size of beak commissure to tip by Fgf8, RA, or Bmp4 treatments may thus be related to the human microstomia in Barx1-related deformity. We found some reports of human syngnathia that also described the accompanying clinical feature of microstomia (Dobrow, 1983;Brown and Marsh, 1990;Valnicek and Clarke, 1993;Kamata et al, 1996;Dawson et al, 1997;Erlich et al, 2000;Daniels, 2004;Verloes et al, 2004;Parkins and Boamah, 2009;Villanueva-Garcia et al, 2009;Halli et al, 2010;Rezende Gde et al, 2013;Konas et al, 2015;Patel et al, 2015). In addition, the congenital microstomia frequently accompanied varying degrees of mandibular deformity, including syngnathia, dysgnathia (deformed jaw) or agnathia (absence of jaw) (Guion-Almeida et al, 2002;Rajan et al, 2007;Schmotzer and Shehata, 2008;Chassaing et al, 2012;Donnelly et al, 2012;Gordon et al, 2013;Gurjar et al, 2013;Patat et al, 2013) These human data and our experimental results may indicate a possible relationship between the microstomia and the maxillomandibular malformation or syngnathia.…”

Section: Developmental Dynamicsmentioning

confidence: 88%

Separate development of the maxilla and mandible is controlled by regional signaling of the maxillomandibular junction during avian development

Tak

Park

Piao

et al. 2016

Developmental Dynamics

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Background: Syngnathia is a congenital craniofacial disorder characterized by bony or soft tissue fusion of upper and lower jaws. Previous studies suggested some causative signals, such as Foxc1 or Bmp4, cause the disruption of maxillomandibular identity, but their location and the interactive signals involved remain unexplored. We wanted to examine the embryonic origin of syngnathia based on the assumption that it may be located at the separation between the maxillary and mandibular processes. This region, known as the maxillomandibular junction (MMJ), is involved in segregation of cranial neural crestderived mesenchyme into the presumptive upper and lower jaws. Results: Here we investigated the role of Fgf, Bmp, and retinoid signaling during development of MMJ in chicken embryos. By changing the levels of these signals with bead implants, we induced syngnathia with microstomia on the treated side, which showed increased Barx1 and neural cell adhesion molecule (NCAM) expression. Redistribution of proliferating cells was also observed at the proximal region to maxillary and mandibular arch around MMJ. Conclusions: We propose that interactive molecular signaling by Fgfs, Bmps, and retinoids around MMJ is required for normal separation of the maxilla and mandible, as well as the proper positioning of beak commissure during early facial morphogenesis. Developmental Dynamics 246:28-40,

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Section: Developmental Dynamicsmentioning

confidence: 88%

Separate development of the maxilla and mandible is controlled by regional signaling of the maxillomandibular junction during avian development

Tak

Park

Piao

et al. 2016

Developmental Dynamics

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“…The articles that preceded or did not use the scheme proposed by Tessier in 1976 were reclassified and adapted according to photos and descriptive data of each study (Boo-Chai, 1970, 1990; Dey, 1973). Two case reports were excluded: one reclassified as a paramedian cleft (Wiltshire et al, 2003) and another described by the author as choanal stenosis (Patel et al, 2015). There were only 8 reported cases of choanal atresia associated with Tessier numbers 3 or 4 clefts (Dey, 1973; Tessier, 1976; Thatte et al, 1987; Ragavan et al, 2012; Allam et al, 2014; Ueda et al, 2015; Sung et al, 2020).…”

Section: Resultsmentioning

confidence: 99%

Tessier 3 and 4 Clefts and Choanal Atresia: An Unusual Association?

Tonello

Martins

Baptista

et al. 2021

The Cleft Palate Craniofacial Journal

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Introduction Craniofacial clefts are rare congenital anomalies that might involve both soft tissue and skeletal components. The association of Tessier cleft number 3 and 4 with choanal atresia appears to be unusual and only few clinical cases have been reported in published literature. Objectives Report a series of 13 cases of choanal atresia in patients with Tessier numbers 3 or 4 clefts and the literature review on this topic. Methods A literature review was undertaken via PUBMED database before April 2020 addressing the association between Tessier numbers 3 or 4 clefts and choanal atresia. Retrospective chart review of patients diagnosed with both comorbidities at a tertiary hospital expertised in craniofacial anomalies. Results Literature review yielded 10 studies describing the relationship between choanal atresia and Tessier 3 and 4 facial clefts. We identified 98 patients diagnosed with medial oro-ocular facial clefts (Tessier 3 and 4) and 119 with choanal atresia at our institution over a 20 years time period. Altogether, 13 individuals were diagnosed with both malformations, 3 patients with number 3 cleft, and 10 patients with number 4 cleft. It represents 13.26% of the cases. Conclusion This study highlights the features of Tessier 3 and 4 facial clefts associated with choanal atresia. Although the publications regarding this association are very scarce, the authors present the largest series of cases of Tessier number 3 and 4 clefts with choanal atresia showing that association between these conditions could be not so unusual.

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“…Syngnathia can be associated with Van der Woude's syndrome,210 popliteal pterygium syndrome, and aglossia-adactylia syndrome 6. It has been described in coexistence with maxillary duplication and a Tessier number 3 nasal cleft11 and with duplication of the craniofacial midline 12. According to Subramanian et al,4 anomalies associated with syngnathia can be cleft palate, mandibular hypoplasia, absent or abnormal tongue morphology, hemifacial microsomia, congenital amputation of arms and legs, glossopalatine ankylosis, Horner's syndrome, cleft mandible, coloboma, scoliosis, and oblique facial clefts.…”

Section: Discussionmentioning

confidence: 99%

“…Postoperative CT scan with mouth opened was performed (►Figs. [10][11][12]. The patient was seen by the speech therapist and the gastroenterology team to rule out a swallowing disorder and prevent aspiration issues.…”

Section: Introductionmentioning

confidence: 99%

Maxillomandibular Syngnathia: 3D Planning and Review of the Literature

Rubio‐Palau

Prieto-Gundin

Graterol

et al. 2018

Craniomaxillofacial Trauma & Reconstruction

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Congenital maxillomandibular fusion or syngnathia is a rare craniofacial disorder with only 26 cases reported in the literature. We present a case of a congenital complex zygomatico-mandibular syngnathia associated with a palatal cleft, posterior maxilla and turbinate agenesia, mild hemifacial microsomia, and a disordered dental eruption. The patient has the highest age (15 years) at diagnosis described in the literature. 3D planning of the surgery was performed to study the patient's anatomy and design the necessary osteotomies to separate the jaws. En bloc removal of the fused fragment with bilateral coronoidectomy and aggressive long-term physiotherapy for 3 months led to a stable increase in mouth opening from 0 to 21 mm inter-incisor distance. The patient reported an improvement in speech, was able to eat without restriction regarding food consistency, and could maintain a good oral hygiene.

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Journey to chew: A case of maxillary duplication and bony syngnathia

Cited by 10 publications

References 16 publications

Separate development of the maxilla and mandible is controlled by regional signaling of the maxillomandibular junction during avian development

Separate development of the maxilla and mandible is controlled by regional signaling of the maxillomandibular junction during avian development

Tessier 3 and 4 Clefts and Choanal Atresia: An Unusual Association?

Maxillomandibular Syngnathia: 3D Planning and Review of the Literature

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