Nasopharyngeal teratoma attached to the lower jaw

A case of an intraoral teratoma attached to both the maxillary and mandibular regions is reported. This case strongly suggests the relationship between the buccopharyngeal membrane and intraoral teratoma. However, the number of cases showing such attachments is too small to permit a definite conclusion.     

Ameloblastic odontoma in a cynomolgus monkey (Macaca fascicularis)

An ameloblastic odontoma occurred in an adult cynomolgus monkey (Macaca fascicularis). The neoplasm involved the upper left maxilla as a disfiguring, fleshy growth. The tissue and cellular changes were consistent with an ameloblastic odontoma which is rare in man, nonhuman primates (NHP), and other vertebrate animals. The monkey was one of 50 adult, single-caged housed cynomolgus monkeys. No additional clinical signs of disease were present. Hematology and serum chemistries were within normal limits. There have been three reports in the literature of ameloblastic odontomas in NHP; however, this is the first reported case of an ameloblastic odontoma in a cynomolgus monkey.     

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas. Seizures, spasticity, and intellectual disability can be present, although affected individuals without seizures and with normal intellect have also been reported. Given the patchy and asymmetric nature of the malformations, ECCL has been hypothesized to be due to a post-zygotic, mosaic mutation. Despite phenotypic overlap with several other disorders associated with mutations in the RAS-MAPK and PI3K-AKT pathways, the molecular etiology of ECCL remains unknown. Using exome sequencing of DNA from multiple affected tissues from five unrelated individuals with ECCL, we identified two mosaic mutations, c.1638C>A (p.Asn546Lys) and c.1966A>G (p.Lys656Glu) within the tyrosine kinase domain of FGFR1, in two affected individuals each. These two residues are the most commonly mutated residues in FGFR1 in human cancers and are associated primarily with CNS tumors. Targeted resequencing of FGFR1 in multiple tissues from an independent cohort of individuals with ECCL identified one additional individual with a c.1638C>A (p.Asn546Lys) mutation in FGFR1. Functional studies of ECCL fibroblast cell lines show increased levels of phosphorylated FGFRs and phosphorylated FRS2, a direct substrate of FGFR1, as well as constitutive activation of RAS-MAPK signaling. In addition to identifying the molecular etiology of ECCL, our results support the emerging overlap between mosaic developmental disorders and tumorigenesis.     

New approach to the gummy smile

The authors present a multidisciplinary approach to the gingival smile in which its three components are evaluated. These components are the dynamic component of the lip (repose versus smiling) and the two static elements of the gum and maxilla. Once an appropriate diagnosis has been made, the authors act on the gingiva for delayed passive eruption, on the maxilla for long face syndrome, and on the lip with lip-elongation techniques. When delayed passive eruption is associated with hyperfunction of the lip elevators, an intraoral approach with an incision at the level of the upper labial frenulum and dissection from the anterior nasal spine to the anterior maxillary fossae, in addition to gingival remodeling, is recommended to reduce gingival exposure.     

Anterosuperior protraction of maxillae using the extraoral device,RAMPA; finite element method

Abstract

This paper presents a boosting effect against gravity by analyzing the displacement and stress distribution of craniofacial structures due to the protraction of the extraoral device, the Right Angle Maxillary Protraction Appliance(RAMPA) system, including semi-rapid maxillary expansion (sRME) using the finite element method. In addition, a patient case was illustrated and compared with the results calculated from a simulation. The results from the finite element method were obtained for 0.5?mm activation using the screw of the intraoral device, gHu-1. This study reveals that RAMPA rotates the patient’s maxilla and mandible in the forward direction and forces them to move forward and upward.     

Modified technique of presurgical infant maxillary orthopedics for complete bilateral cleft lip and palate

This article introduces technical modifications to the conventional presurgical infant maxillary orthopedics device for newborns with complete bilateral cleft lip and palate, providing procedural simplicity and efficiency as well as therapeutic efficacy. The modifications incorporate a wax block-out on the stone model prior to device fabrication in a manner that the need for periodic acrylic addition and removal is not required, and thus eliminates the risk of natural maxillary growth restriction during infant maxillary orthopedics treatment. The premaxilla is completely excluded from the acrylic palatal plate and is repositioned primarily by the bilateral labial tape alone. In addition, nasal stent wires are installed on the same day of the palatal plate delivery to establish a tripod-like retention mechanism for the intraoral device to be able to replace the conventional mechanical lock-type retention methods. Applying these modifications, infant maxillary orthopedics treatment objectives for bilateral cleft lip and palate can be successfully achieved within 8 weeks of treatment, and the definitive primary cleft lip repair can be performed within 3-4 months of infant maxillary orthopedics treatment at our Center.     

Immediate versus delayed midface distraction in a primate model using a new intraoral internal device

The theoretic advantage of distraction osteogenesis of the craniofacial skeleton, especially in cases of severe midface retrusion and in the presence of maxillary scarring, is prevention of relapse following significant advancements. The purpose of this study is to demonstrate the utility of a new low-profile, intraoral, internal device for midface distraction at the conventional or high Le Fort I level. In addition, the present study compares the efficacy of immediate versus delayed distraction on subsequent maxillary relapse. Four adult rhesus Macaca mulatta monkeys were divided into two groups. Group 1 underwent immediate midface distraction; group 2 underwent delayed distraction. All four monkeys underwent a modified Le Fort I osteotomy through an upper buccal sulcus incision and bilateral application of the intraoral midface distraction devices. No other osteotomies or incisions were necessary. Immediate distraction, performed in group 1, entailed intraoperative activation of the devices and distraction of 10 mm followed by a 5-day lag period before postoperative activation and distraction of an additional 10 mm at the rate of 1 mm/day. Delayed distraction, performed in group 2, entailed a 5-day postoperative lag period before device activation and distraction of 20 mm at the rate of 1 mm/day. Both groups thus underwent 20 mm of midface distraction. All devices were removed 6 weeks after completion of distraction. All monkeys tolerated the devices and daily distraction uneventfully. On the basis of serial cephalograms and dental models obtained throughout the experimental period, there was no evidence of relapse in either the immediate or delayed groups 6 months after distraction. In addition, on the basis of histologic, ultrastructural, and dry skull analysis, no significant differences were observed in the quality of regenerate bone obtained when comparing the immediate and delayed distraction groups. Significant midface advancement is thus feasible using this new internal, intraoral distraction device, which presents several advantages over other internal devices that require coronal incisions and additional osteotomies to achieve midface advancement. In addition, immediate distraction may abbreviate the distraction period without adverse sequelae.     

A long-term retrospective outcome assessment of facial growth,secondary surgical need,and maxillary lateral incisor status in a surgical-orthodontic protocol for complete clefts

In 1965, the cleft palate team at Children's Memorial Hospital embarked on a new surgical-orthodontic protocol in the habilitation of newborn complete cleft lip and palate cases. It brought the orthodontic effort into focus at birth and in planned sequence to correspond with the surgical procedures of lip closure, maxillary alveolar stabilization by means of an autogenous graft of the authors' design, and complete palate closure, all within the first year of life. The purpose of this investigation is threefold: first, to review the authors' previous publications and assess growth, secondary surgical need, and lateral incisor status of teeth adjacent to the cleft in a series of patients who have all followed a precise, early surgical/orthodontic protocol; second, to compare these cases with other collaborative studies wherein this protocol was not used; and third, to report on an additional 82 cases with regard to secondary surgical need and the status of teeth adjacent to the cleft. Methods of assessment have included cephalometric radiography, periapical and occlusal dental radiography, computer-assisted tomography, plaster cast analysis, and intraoral and extraoral photography. The authors have demonstrated, along with other collaborative studies, that there is growth as good as other similar samples wherein there was no primary osteoplasty. In addition, the authors found their incidence of orthognathic surgery to be 18.29 percent; pharyngoplasty, 3.65 percent; and oronasal fistulas requiring surgical closure, 29.27 percent. In the case of unilateral complete clefts, 53.13 percent of those lateral incisors present adjacent to the cleft area were usable, and in bilateral cases, 57.77 percent were usable. The authors remain convinced after more than 35 years of following this successful protocol that early maxillary orthopedics and their technique of primary osteoplasty in planned sequence with lip and palate closure can produce a more favorable alignment of maxillary growth potential and, with comprehensive orthodontic treatment, can lead to teeth in a better overall occlusion than if these procedures had not been undertaken.     

Interdental distraction osteogenesis and rapid orthodontic tooth movement: a novel approach to approximate a wide alveolar cleft or bony defect

The closure of a wide alveolar cleft and fistula in cleft patients and the reconstruction of a maxillary dentoalveolar defect in traumatic patients are challenging for both orthodontists and surgeons. This is due to the difficulty in achieving complete closure by using local attached gingiva and the great volume of bone required for the graft. In this article, the authors propose using interdental distraction osteogenesis to create a segment of new alveolar bone and attached gingiva for the complete approximation of a wide alveolar cleft/fistula and the reconstruction of a maxillary dentoalveolar defect. They performed this procedure on one patient with a traumatic maxillary dentoalveolar defect and 10 patients with unilateral or bilateral cleft lips and palates who had varied dentoalveolar clefts/fistulas. Interdental and maxillary osteotomies were performed on one side of the dental arch by the cleft or defect. After a latency period of 3 days, the osteotomized distal segment of the dental arch was then distracted and transported toward the cleft or defect by using a toothborne intraoral distraction device. The alveoli and gingivae on both ends of the cleft or defect were approximated after distraction osteogenesis. The need for extensive alveolar bone grafting was eliminated. A segment of new edentulous alveolus and attached gingiva was created interdentally at a site distant to the cleft or defect. In the cleft patients, teeth were moved orthodontically into the regenerate (newly formed alveolar bone) dental crowding 1 week after distraction. The orthodontic tooth movement was rapidly completed in 3 months, and the edentulous space was eliminated. Interdental distraction osteogenesis minimizes an alveolar cleft/fistula and helps reconstruct a maxillary dentoalveolar defect by approximating the native alveoli and gingivae; it also creates new alveolar bone and gingiva for rapid orthodontic tooth movement.     

A novel mutation of adenomatous polyposis coli (APC) gene results in the formation of supernumerary teeth

Supernumerary teeth are teeth that are present in addition to normal teeth. Although several hypotheses and some molecular signalling pathways explain the formation of supernumerary teeth, but their exact disease pathogenesis is unknown. To study the molecular mechanisms of supernumerary tooth‐related syndrome (Gardner syndrome), a deeper understanding of the aetiology of supernumerary teeth and the associated syndrome is needed, with the goal of inhibiting disease inheritance via prenatal diagnosis. We recruited a Chinese family with Gardner syndrome. Haematoxylin and eosin staining of supernumerary teeth and colonic polyp lesion biopsies revealed that these patients exhibited significant pathological characteristics. APC gene mutations were detected by PCR and direct sequencing. We revealed the pathological pathway involved in human supernumerary tooth development and the mouse tooth germ development expression profile by RNA sequencing (RNA‐seq). Sequencing analysis revealed that an APC gene mutation in exon 15, namely 4292‐4293‐Del GA, caused Gardner syndrome in this family. This mutation not only initiated the various manifestations typical of Gardner syndrome but also resulted in odontoma and supernumerary teeth in this case. Furthermore, RNA‐seq analysis of human supernumerary teeth suggests that the APC gene is the key gene involved in the development of supernumerary teeth in humans. The mouse tooth germ development expression profile shows that the APC gene plays an important role in tooth germ development. We identified a new mutation in the APC gene that results in supernumerary teeth in association with Gardner syndrome. This information may shed light on the molecular pathogenesis of supernumerary teeth. Gene‐based diagnosis and gene therapy for supernumerary teeth may become available in the future, and our study provides a high‐resolution reference for treating other syndromes associated with supernumerary teeth.     

Differentiation and regenerative capacities of human odontoma-derived mesenchymal cells

Regenerating human tooth ex vivo and biological repair of dental caries are hampered by non-viable odontogenic stem cells that can regenerate different tooth components. Odontoma is a developmental dental anomaly that may contain putative post-natal stem cells with the ability to differentiate and regenerate in vivo new dental structures that may include enamel, dentin, cementum and pulp tissues. We evaluated odontoma tissues from 14 patients and further isolated and characterized human odontoma-derived mesenchymal cells (HODCs) with neural stem cell and hard tissue regenerative properties from a group of complex odontoma tissues from 1 of 14 patients. Complex odontoma was more common (9 of 14) than compound type and females (9 of 14) were more affected than males in our set of patients. HODCs were highly proliferative like dental pulp stem cells (DPSCs) but demonstrated stronger neural immunophenotype than both DPSCs and mandible bone marrow stromal cells (BMSCs) by expressing higher levels of nestin, Sox 2 and βIII-tubulin. When transplanted with hydroxyapatite/tricalcium phosphate into immunocompromised mice, HODCs differentiated and regenerated calcified hard tissues in vivo that were morphologically and quantitatively comparable to those generated by DPSCs and BMSCs. When transplanted with polycaprolactone (biodegradable carrier), HODCs differentiated to form new predentin on the surface of a dentin platform. Newly formed predentin contained numerous distinct dentinal tubules and an apparent dentin–pulp arrangement. HODCs represent unique odontogenic progenitors that readily commit to formation of dental hard tissues.     

Commissure stabilization appliance in facial reanimation surgery.

A modified maxillary appliance is described that provides an inexpensive intraoral method of commissure stabilization which effectively prevents transmission of stretching forces onto the delicate anastomoses and muscle insertion at the commissure and upper lip in the immediate and early postoperative period. It is well tolerated by the patient, does not interfere with eating, and may be carefully removed for periodic cleaning. It is a simple technique that adds an increased measure of flap security without any risk of morbidity.     

Intraoral wound closure with tissue-engineered mucosa: new perspectives for urethra reconstruction with buccal mucosa grafts

In urethra reconstruction, the creation of a new urethra from a free oral mucosa graft is an established surgical technique. The oral mucosa is removed at the same time that the urethra reconstruction procedure is performed. Depending on the size of graft required, the intraoral wound is closed primarily or left to heal secondarily. The latter method limits this technique by leading to scars or strictures, which have a negative impact on the condition of the intraoral soft tissue. Therefore, in this study, a pilot study involving 12 patients, tissue-engineered mucosa was tested for covering intraoral defects to avoid the drawbacks mentioned above. For mucosa tissue-graft engineering, a biopsy sample 2 to 4 mm in diameter was removed from the hard palate approximately 4 weeks before the urethra reconstruction procedure was to be performed. In addition, 30 ml of autogenous serum was extracted from a venous whole-blood sample. The primary cultures were incubated in Dulbecco modified Eagle's medium and nutrient factor F 12 (Gibco Co., Eggenstein, Germany), containing the usual additives and autogenous serum. After a period of 3 weeks, subcultivation was performed to engineer mucosa transplants consisting of several layers of keratinocytes on a support foil. After thorough intraoperative blood coagulation had occurred, the cultured mucosa graft on the carrier foil was applied on the wound surface and fixed by single sutures. Additionally, the cultured mucosa graft was covered for 8 to 10 days by an intraoral dressing, which was also fixed onto the wound surface by single suture loops. It is possible to perform primary intraoral wound closure with tissue-engineered mucosa to cover defect sizes as large as 11.0 x 4.0 cm. This new method provides a better prospect for both urethra reconstruction and the reconstruction of intraoral tissue defects. The number and size of intraoral scars and strictures are diminished. This is of special interest for the reconstruction of the functional unit oral cavity, including soft tissue and cosmetic conditions (e.g., in case of prosthetic rehabilitation). In comparison to primary wound closure with local tissue, the technique presented in this study reduces the severity of postoperative pain and allows faster rehabilitation in patients because of a better wound-healing process. Furthermore, better mobility of intraoral soft tissue structures is achieved.     

Craniofacial manifestations in the Marfan syndrome: palatal dimensions and a comparative cephalometric analysis

The purpose of this study was to determine how the craniofacial morphology, evaluated from dental casts and lateral cephalograms, in individuals affected by the Marfan syndrome diverge from healthy control groups. The high and narrow palatal vault as well as maxillary and mandibular retrognathy were strongly correlated to the syndrome. About 70% of the Marfan syndrome patients (n = 76) had been referred for orthodontic treatment, mostly because of crowded teeth or extreme maxillary overjet. In 36%, the orthodontic treatment was carried out before diagnosis or suspicion about the Marfan syndrome. In comparison to healthy orthodontic patients (n = 86), selected because of presence of high and narrow palatal vaults, crowding of teeth, extreme maxillary overjet, and open bite were much more prevalent in the Marfan syndrome patients than in the orthodontic control group.     

Adaptive variability of the gustatory system receptor part of the carp Cyprinus carpio (Cyprinidae, Teleostei) after chronic anosmia

To confirm the existence in fish of the olfactogustatory interactions of adaptive significance, the study was performed of reactions of the receptor part of the carp gustatory system to the complete olfactory deafferentation with use of the method of scanning electron microscopy. Peculiarities of morphological changes of the taste receptor apparatus of the external and oral localization were revealed, and the dynamic of development of the taste receptor adaptive changes was traced for 1–9 months after production of anosmia. Receptors of the intraoral gustatory system had reactions of low statistical significance which were delayed in time by 5–6 months. The receptor apparatus of the external gustatory system receptors of the intraoral taste system showed pronounced hypertrophic changes that appeared since 2–3 months after the beginning of anosmia. The changes consisted in an increase of the area of the taste bud (TB) sensory field and of their number in the sensory zones of the maxillary and mandibular parts. The taste receptors located in the maxillary barbels and in the mandible gular zone had the most expressed reactions to the olfactory deafferentation. In the fish with anosmia, formation of the additional structures of the “external taste” was detected in the form of epidermal processes under the lower lip, which were covered with taste papillae. Thus, it has been shown that the fish olfactory and gustatory systems are functionally interrelated; under conditions of olfactory deprivation the external gustatory system is able to undergo compensatory morphofunctional changes aimed at vicariation of the lost distant chemical reception.     

Modified technique of presurgical infant maxillary orthopedics for complete unilateral cleft lip and palate

This article introduces a modified device fabrication and facial taping method that increases the efficiency and efficacy of presurgical infant maxillary orthopedic therapy for babies born with complete cleft lip and palate. Interarch and intra-arch relationships of the maxillary and mandibular dental arches were evaluated on mounted stone models before and after treatment. The palatal plate device was custom-fabricated in a manner that bypassed the need for periodic acrylic addition and removal, thereby eliminating the risk of natural maxillary growth restriction during therapy. Elastic labial tapes were fabricated and applied in a configuration that mimicked normal function of the orbicularis oris muscle. A nasal stent wire was utilized from the initiation of therapy to enhance intraoral retention and stability of the device. Examples of infants undergoing a unilateral complete cleft lip and palate treatment protocol are presented. Treatment objectives were achieved within 7 to 8 weeks of therapy for patients who had an initial alveolar cleft size more than 10 to 12 mm. The modified protocol of presurgical infant maxillary orthopedic therapy is an effective and efficient treatment modality in reversing the pre-existing orofacial dysmorphism by redirecting the infant's natural growth.     

Oral and craniofacial morphology of a patient with Larsen syndrome

A case is reported of a 15 years old Chinese female with Larsen syndrome exhibiting many characteristic facial and skeletal features plus hitherto unreported orofacial anomalies including delayed dental development; hypodontia affecting all the permanent canines, second and third molars, maxillary lateral incisors and second premolars; morphological anomalies of the maxillary first premolars and molars; a class 3 skeletal pattern and reduced upper facial height. Cephalometric radiographs showed the skull bones to have an appearance similar to that of osteopetrosis.     

Two cases of nevoid basal cell carcinoma syndrome

Motivated by the diagnosis and treatment of two cases of nevoid or Goltz-Gorlin syndrome, we have taken a brief look at the literature and present these two cases, which display the four principal features defining this syndrome: multiple basal cell carcinomas, maxillary cysts, skeletal anomalies, and ectopic calcifications. Certain aspects are emphasized, including the association in one of them of basal cell carcinomas with a cystic adenoma or Brooke's tumor, which, although described by other authors, is infrequent.     

Maxillary sinus atelectasis in a wild born gibbon (Hylobates moloch)

In a mixed sex sample of ten adult gibbon (Hylobates moloch) skulls, one cranium of a male with maxillary sinus atelectasis of the left side was identified. While external inspection revealed a slight drop of the left orbital floor, serial coronal computer tomography (CT) scans show characteristic changes of the left maxillary sinus and its surrounding structures. In addition to the sunken orbital floor, radiological features of the specimen include an inward bowing of the medial sinus wall, sinus opacification, and a reduction in maxillary sinus size to a slit-like cavity, which suggest a diagnosis of silent sinus syndrome. This report is the first, to our knowledge, of maxillary sinus atelectasis in a non-human primate. This finding is valuable for the understanding of the pathogenesis and etiology of maxillary sinus atelectasis. At the same time, however, paleoanthropologists and primatologists may refer to this information when dealing with the interpretation of maxillary sinus pneumatization of partially broken archaeological and fossil skulls.     

Selected clinical research involving the central nervous system

This paper updates three clinical research projects involving the central nervous system. Discussions of conditions with encephalocele include several associations: encephalocele/craniostenosis, transsphenoidal encephalocele/hypothalamic-pituitary dysfunction, encephalocele/oculo-auriculo-vertebral spectrum, and encephalocele/frontonasal dysplasia. The relationship between oculo-auriculo-vetebral spectrum with encephalocele and frontonasal dysplasia with epibulbar dermoids and ear tags is also discussed and an explanation for encephalocele formation in the Apert syndrome is provided. Studies of the central nervous system in Apert syndrome indicate that distortion ventriculomegaly is common, but progressive hydrocephalus occurs infrequently. A recurrent pattern of abnormalities was discerned consisting of megalencephaly, gyral abnormalities, and defects of the corpus callosum and limbic structures. Five neuropathologic studies lend further support to this pattern of CNS anomalies in the Apert syndrome. In a study of holoprosencephaly, eight principles governing associated facial dysmorphism were derived. Each diagnostic category was shown to have its own frequency and range of holoprosencephalic faces. Some categories, such as del(13q), have narrow ranges; others, such as trisomy 13 syndrome, have broad ranges. However, no broad diagnostic range is known to include agnathia-holoprosencephaly and other severe forms of facial dysmorphism without agnathia. Absent maxillary incisors and a single maxillary central incisor are extremely common in holoprosencephaly with severe facial dysmorphism and may occur on occasion as a striking microform of holoprosencephaly, most commonly in the autosomal dominant form.