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Gorham's disease is a rare condition characterized by progressive osteolysis of bone ultimately resulting in the total disappearance of bone. The etiology is unknown and the disease predominantly affects the pelvis, humerus, and axial skeleton. Because of its unusual, ambiguous presentation and rare occurrence, the disorder goes unrecognized and is often masqueraded by other disorders. The diagnosis of this disorder is by exclusion. About 50 cases of Gorham's disease involving the maxillofacial region are reported to date and most of them involve the mandible. Exclusive involvement of maxilla is documented in only 4 cases. We report an exceptional case of Gorham's disease of the maxilla in a 68-year-old male patient presenting with chronic pain and masquerading as an odontogenic infection.

Objective In this study, we examined if 6–9 Hz jaw tremor, an indirect indicator of Periodontal Mechanoreceptor (PMR) activity, is different in bruxists compared to healthy participants during production of a low-level constant bite force. Methods Bite force and surface EMG from the masseter muscle were recorded simultaneously as participants (13 patients, 15 controls) held a force transducer between the upper and lower incisors very gently. Results Tremor in 6–9 Hz band for bruxists was greater on average compared to controls, but the difference was not significant, both for force recordings and EMG activity. Conclusions The low effect sizes measured with the current protocol contrast highly with those of our previous study, where larger, dynamic bite forces were used, and where jaw tremor was markedly different in bruxists compared with controls. Significance We have now gained important insight into the conditions under which abnormal jaw tremor can be elicited in bruxism. From a scientific standpoint, this is critical for understanding the ‘abnormality’ of PMR feedback in bruxism. From a clinical perspective, our results represent progress towards the development of an optimal protocol in which jaw tremor can serve as a biological marker of bruxism.

Marcus Gunn phenomenon (MGP) is a rare form of congenital facial synkinesis known as jaw-winking or pterygoid-levator synkinesis. The MGP is the raising of the affected eyelid is synchronous and proportionate to the opening of the mouth. The etiology is unclear. Most authors claim that a branch of trigeminal nerve has been congenitally misdirected into position of the oculomotor nerve which supplies the levator muscle of the upper lid. The MGP deals with number of problems which have to be manage by ENT doctors, but they are not well‑documented. We describe the first time Marcus Gunn phenomenon associated with an olfactory nerve disturbance. We have especially emphasized laryngological aspect of MGP diagnosis and the need for deeper interdisciplinary diagnostics in each child with olfactory dysfunction.

Purpose Class 3 malocclusions with maxillary deficiency, which are treated surgically and/or ordonotically, are common among adult patients. The aim of this study was to develop a three-directional bone-borne distractor that would allow the transverse expansion and sagittal advancement of the maxilla simultaneously. Materials and methods Computed tomography images of a patient with maxillary deficiency were transmitted to a software program, and a distractor was designed with different sizes (D1, D2, D3) and manufactured from titanium alloy. Y-shape segmental osteotomies were performed on the model, and vertical bite forces were applied. The biomechanical properties were evaluated by using the finite element method. Results The highest von Mises stress value on the body of the distractor was seen in D2 (D2>D3>D1), with 234 N bite forces. D2 had maximum stress distribution on maxillary bone under 234 N and 93 N (D2>D1>D3). No difference was found among the plastic deformation rates according to biomechanical test results. Conclusion A three-directional bone-borne palatal distractor was produced, and this distractor system can be used for the treatment of skeletal class 3 patients with maxillary hypoplasia for its advantages of shortening the overall treatment time and reducing the scar formation. However, further animal and clinical studies are essential to determine the biological response of soft and hard tissues.

The purpose of this study was to clarify the impact of orthognathic surgery on oral health-related quality of life (OHRQOL) in patients with jaw deformities. The subjects were 65 patients (21 males and 44 females) who underwent orthognathic surgery. The mean age of the patients was 23.6 years. Forty-seven patients had skeletal class III malocclusions, eight patients had skeletal class II, and 10 patients had skeletal class I with facial asymmetry and/or open bite. OHRQOL was assessed using the Japanese version of the Oral Health Impact Profile (OHIP-J54) before and 6 months after surgery. While OHIP-J54 scores in the patients before surgery were significantly higher than those in the control subjects, OHIP-J54 scores after surgery were significantly lower than those before surgery. OHIP-J54 scores in older patients were significantly higher than those in younger patients. In conclusion, most patients with jaw deformities have lower OHRQOL than individuals with normal occlusion, and orthognathic surgery has a positive impact on OHRQOL. The determination of OHRQOL in patients with jaw deformities seems to be very useful for understanding the patients' problems and for assessing the extent of changes in terms of patient well-being.

In the United States, the most widely used classification system for jaw deformities is the one provided by the Center for Medicare and Medicaid Services and the National Center for Health Statistics. This classification is part of the International Classification of Diseases, Clinical Modification (ICD-CM), a taxonomy scheme that is based on the World Health Organization’s ICD, the world’s standard diagnostic tool for epidemiology, health management, and clinical care. 1 The most recent iteration of ICD-CM, the Tenth Revision (ICD-10-CM), sorts jaw deformities according to geometry into 3 groups: anomalies of jaw size, anomalies of the relation between the jaw and the cranial base, and unspecified (Table 1). 2 However, these deformities can affect 6 different geometric attributes: size, position, orientation, shape, symmetry, and completeness. In clinical practice and in teaching, the authors have found the ICD-CM classification to be incomplete and disjointed. With this in mind, the authors have developed a better classification system. The purpose of this report is to present it.

An array of genetic syndromes has been associated with intra-oral adhesions in neonates. The primary medical issues arise from airway obstruction, feeding difficulties and poor oral development, specifically with cleft palate lateral synechia syndrome (CPLSS). Despite this, a paucity of data exists for the clinical management of intra-oral adhesions in this population. We report the cases of a father and daughter diagnosed with CPLSS who presented with respiratory and feeding difficulties at birth undergoing surgical correction. Early surgical ligation of intra-oral bands allows for a stabilization of the airway, improved feeding and oral development with a good long-term outcome.

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.

Objectives The CLEFTSiS (Cleft Service in Scotland) electronic patient record (EPR) contains pre-surgical photographs among other records and this study proposes to assess the reliability of diagnosis and accuracy of the type and extent of cleft. Design and setting Retrospective study, University of Dundee. Materials and methods From all 1092 cases contained by the CLEFTSiS EPR from inception (April 2000) until September 2011; syndromic, atypical and submucous clefts, still births, abortuses, cases with non-cleft velopharyngeal incompetence, Pierre Robin Sequence, or Simonart's bands were excluded to leave 730 case records for analysis. Observer 1 recorded the LAHSAL subphenotype using the pre-surgical photographs for each case. Images that were absent, only partially demonstrated the intended anatomical site or were unclear were excluded. The data for Observer 1 was compared to the EPR subphenotype using the Kappa statistic. Thirty randomly selected cases were recoded one month later to calculate intra-observer reliability and three further observers subphenotyped these cases to determine inter-examiner reliability, both using Kappa statistics. Results Intra- and inter-observer reliability of the LAHSAL system were excellent (0.809–0.992). The correspondence between Observer 1 and the original CLEFTSiS subphenotype was almost perfect (0.812–0.862) except the soft palate and the left alveolus, where agreement was substantial (0.638–0.776). Only 68 (9.3%) of the records fully demonstrated all six anatomical areas of the LAHSAL coding system with intra-oral images being the most frequently deficient views. Conclusions The subphenotype data held on the CLEFTSiS EPR is accurate but incomplete. Only 9.3% of cases contained all relevant pre-surgical photographs. Subphenotyping using the LAHSAL classification has a high degree of intra- and inter-observer reliability.

Introduction Congenital maxillomandibular syngnathia, or fusion of the jaws, is a rare condition that has a broad spectrum of presentations. The restricted mouth opening can lead to issues with feeding, swallowing, and respiration resulting in failure to thrive and temporomandibular joint ankylosis. Early recognition and treatment is necessary for proper growth and development. Case report We report a 1-day-old male with isolated bilateral soft tissue alveolar fibrous bands. He presented with difficulty feeding secondary to trismus. No bony or muscular involvement in the synechiae was noted and the remainder of the physical exam was unremarkable. The bilateral alveolar synechiae were divided under local anesthesia using surgical scissors. The patient immediately showed improvement in mouth opening and had resolution of his feeding problems. He is now gaining weight and developing appropriately. Discussion The accompanying review of the literature demonstrates only 11 cases worldwide of isolated maxillomandibular fusion. Depending upon the composition of the synechiae, simple surgical division under local anesthesia can be curative.

The correction of transverse skeletal abnormalities occupies a special place in orthognathic surgery. Maxillofacial surgeons employ a variety of techniques, but treatment stability remains a common problem. This paper presents a range of therapeutic options with special emphasis on two little-known techniques for correcting transverse skeletal abnormalities: symphyseal distraction and mandibular constriction. These techniques are described and their indications discussed.

Objectives The purpose of this study was to compare the changes of the condylar axis, the anteroposterior condylar position relative to the glenoid fossa, and post–2-jaw surgery stability. Study design All of the patients (12 male, 14 female) were assessed by cone-beam computerized tomography (CBCT) before surgery, after surgery, and at follow-up. CBCT images were referenced to assess skeletal stability, the condylar axis change, and the anteroposterior condylar position in the glenoid fossa. A repeated-measures analysis of variance (P = .05) also was performed. Results The skeletal changes between postsurgery and follow-up (P < .05) were insignificant. Both the axial condylar angles and the anteroposterior condylar position significantly differed among the groups (P < .05). Conclusions After surgery, the coronal condylar axis was rotated inward. The anteroposterior condylar position in the glenoid fossa had moved from the anterior to the concentric position, tending to return slightly toward the original position. These changes did not negatively affect the stability.

Congenital fusion of the jaws is the inability to open the mouth at the time of birth. It occurs as a result of fusion of the jaws or fusion of the mandible to zygoma or temporal bone. The authors report four case studies and describe their management protocol.

Congenital maxillomandibular fusion is a rare disorder of the craniofacial region. Maintenance of the airway and difficulty in feeding are the main concerns for such patients. We performed a PubMed search to identify reported cases of syngnathia. With reference to the site of fusion and corresponding anomalies, the available studies were reviewed. The maxillomandibular fusion can be anterior fusion, unilateral or bilateral fusion, and complete fusion. The condition can be an isolated problem or associated with a syndrome. The condition requires immediate attention because it can be fatal. A case of isolated unilateral syngnathia, with the detailed review of the published data, is reported.

Introduction Traditional cephalometric radiographs can analyze facial soft-tissues 2 dimensionally. Because they cannot provide information about the nose, lips, cheeks, and mouth, another method is needed to analyze these soft tissues. We introduce a new method for analyzing the 3-dimensional (3D) shape and size of facial soft-tissue morphology. Methods A 3D average face model was constructed based on 3D computed tomography images of Japanese male and female adult volunteers who had well-balanced faces and normal occlusions. To test the feasibility of evaluating the quantitative effects of surgery, preoperative and postoperative 3D computed tomography images of facial soft tissues of 1 man and 1 woman were superimposed on the average faces. Results This quantitative assessment provided a comprehensive evaluation of the characteristics that separate size and shape. It was possible to view the superimposed images from any desired angle on a personal computer. Conclusions This method provides easy-to-understand information for patients and appears to be useful for clinical diagnosis and pretreatment and posttreatment soft-tissue morphologic evaluations of patients with jaw deformities.

Congenital fusion of the jaws is rare. It may be unilateral or bilateral and may involve only the soft tissues or both the hard and soft tissues. This anomaly may be seen separately or in association with other syndromes. Congenital alveolar fusion restricts mouth opening, causing problems with feeding, swallowing, and respiration. Case 1 had membranous bands between the alveoli that required tracheostomy for stabilization, followed by osteotomy for release. Postoperatively, both patients had adequate mouth opening.

Computer-assisted maxillofacial orthognathic surgery is an emerging and interdisciplinary field linking orthognathic surgery, remote signal engineering and three-dimensional (3D) medical imaging. Most of the computational solutions already developed make use of different specialized systems which introduce difficulties both in the information transfer from one stage to the others and in the use of such systems by surgeons. Trying to address such issue, in this work we present a common computer-based system that integrates proposed modules for planning and assisting the maxillofacial surgery. With that we propose to replace the current standard orthognathic preoperative planning, and to bring information from a virtual planning to the real operative field. The system prototype, including three-dimensional cephalometric analysis, static and dynamic virtual orthognathic planning, and mixed reality transfer of information to the operation room, is described and the first results obtained are presented.

Klinefelter syndrome (KS) is the most common chromosomal abnormality in humans. Taurodontism may occur as one of many dentofacial manifestations of KS and can be detected before development of other physical characteristics. Identification of patients with taurodontic teeth may lead to early recognition of the disorder and could substantially improve quality of life. The objective of this report is to review the general characteristics and dentofacial manifestations of KS, specifically taurodontism, and present a patient with the 48,XXXY variant where root-canal therapy was successfully completed in 3 anatomically varied taurodontic teeth.

The purpose of this article is to discuss some of the more commonly performed aesthetic surgical procedures to augment the final outcome of orthognathic surgery. These procedures are divided into two categories: those that can safely and predictably be performed simultaneously with orthognathic surgery and those that ideally should be performed independently of orthognathic surgery. This latter category also includes camouflage surgery, which includes aesthetic surgical procedures that are performed to camouflage or mask underlying dentofacial deformities in patients who, for various reasons, are not candidates for traditional orthognathic surgery or prefer a "smaller" operation. Camouflage surgery may be an attractive alternative for this group of patients because it is usually a much smaller operation and has a shorter recovery period.

A patient who is unconscious and paralysed has a condyle that is different from what it would be were he awake and the same force applied. The occlusion may relapse as a result of changes in condylar position immediately after the removal of intermaxillary fixation (IMF). Examination of the occlusion and an understanding of the changes secondary to a condylar displacement can identify it reliably during the operation. A study group (n=78) and a control group (n=74) were chosen randomly from patients listed for bimaxillary orthognathic surgery. No local anaesthetic was infiltrated so as not to disturb proprioception. In the study group, the IMF was removed immediately after the fixation and the occlusions were checked with light digital pressure on the chin. The patients were then woken rapidly (maintaining the intubation) in a state of conscious analgesia and sedation and invited to open and close their mouths and to move the mandible laterally. If clinical examination of the passive and active movements of the mandible were suitable, the anaesthetics were topped up and the operation completed. "Conscious" analgesia and sedation is certainly a valid aid during orthognathic surgery.

Treatments to correct skeletal deformities in patients with hemimandibular hyperplasia differ, particularly about the age at which the operation is done and the operation itself. To some extent, the differences can be attributed to the unknown biological basis of disease. The aim of the present study was to evaluate clinically the outcome of a rationale for the operation based on condylectomy on the affected side. Histological, radiological, and nuclear methods were used to get a more detailed insight into the reason for the operation. Six patients with hemimandibular hyperplasia were treated by a combined orthodontic-maxillofacial protocol. All patients had the affected joint removed. The histological morphology of each condylar specimen was compared with the bone scintigraphy to try and find a correlation between the methods. The clinical evaluation showed morphological and functional rehabilitation of all six patients. During the 2-year follow-up, all patients had stable symmetrical mandibles with no disturbance of temporomandibular function. Remodelling of the joint and the destruction of the cartilaginous layer was accompanied by much bone scintigraphic activity. We conclude that condylectomy can correct hemimandibular hyperplasia, even in patients with active condylar growth, by removing the underlying disease.

In an adult patient with a severe skeletal Class III malocclusion with midline deviation, combined surgical-orthodontic therapy is often the treatment of choice because it has a satisfying outcome, and the results tend to be stable. Sometimes, however, patients will not accept surgery as a part of the treatment. We report a nonsurgical treatment approach and its outcomes for an adult patient with a skeletal Class III malocclusion with a lateral shift. Treatment included distal movement of the mandibular arch and extraction of the third molars.

Trichorhinophalangeal syndrome (TRPS) type I is characterized by slowly progressing systemic osseous dysplasia, exhibiting craniofacial and other skeletal deformities. However, there have been few reports describing this syndrome after undergoing orthognathic surgery. In this report, we present a patient with TRPS I who successfully underwent orthognathic surgery. In addition, we examined the skeletal stability of the patient for 2 years after the surgery.

The purpose of this study was to compare postsurgical time course changes in condylar long axis and skeletal stability between sagittal split ramus osteotomy (SSRO) and intraoral vertical ramus osteotomy (IVRO).Of 40 Japanese patients with a diagnosed jaw deformity, 20 underwent IVRO without internal fixation and 20 underwent SSRO with rigid internal fixation. The time course change in condylar long axis and skeletal stability were assessed with axial, frontal, and lateral cephalograms.A significant difference in the rotation direction of condylar long axis was seen in horizontal axial cephalogram images (P.01). In Pog-N perpendicular to SN, the IVRO group showed gradual decrease, although SSRO group showed gradual increase in lateral cephalogram (P.05).The present results suggest a significant difference between SSRO and IVRO in time course changes in proximal segment including condyle and distal segment.

Purpose The purpose of this study was to evaluate if a correlation exists between: a) transverse changes in the proximal segments because of mandibular setback surgery and b) postsurgical horizontal relapse of the mandible. Patients and Methods A total of 42 patients underwent bilateral sagittal split ramus osteotomy setback with rigid fixation and Le Fort I osteotomy performed by 1 surgeon between 1986 and 2000. The radiographic material for this study consisted of posteroanterior and lateral cephalometric radiographs for each patient taken preoperatively (T1), early postoperatively (T2), and late postoperatively (T3). Twenty-four of the 42 identified patients had T1, T2, and T3 radiographs, while the remainder of the patients had only T1 and T2 radiographs available. The posteroanterior radiographs were used to evaluate the angulation of the proximal segment and the intergonial width. Results Statistically significant increases in intergonial width and proximal segment angulation occurred from T1 to T2. In fact, all 42 patients had an increased intergonial width from T1 and T2. From T2 to T3, most patients underwent some relapse in their transverse dimension changes (21 of 24 patients had a decrease in their intergonial width). Overall, the intergonial width and the proximal segment angulations were significantly increased from T1 to T3. However, there was no significant correlation between the amount of transverse displacement of the proximal segment and horizontal postsurgical relapse of the mandible. Conclusion The results show that statistically significant changes in the transverse width and angulation between proximal segments occur in patients undergoing bilateral sagittal split ramus osteotomy for mandibular setback with rigid fixation. However, the magnitude of the changes was small, and it is still uncertain as to whether these changes are of any clinical significance.

Objectives To determine any differences in the intra- and postoperative morbidities and complications between resorbable and titanium plating systems for fixation in orthognathic surgery. Study design This prospective randomized clinical trial was conducted in the Oral and Maxillofacial Surgery unit of the University of Hong Kong. Patients with dentofacial deformities were randomly assigned into the titanium and resorbable fixation groups. Intraoperative data such as the surgical procedures, time for fixing each plate, and number of broken plates and screws were recorded. Subjective and objective parameters related to clinical morbidities were assessed postoperatively. Results A total of 60 patients with 177 osteotomies were included in this study. Eighty-seven osteotomies fixated with 196 titanium plates and 784 titanium screws were performed in 30 patients, whereas 90 osteotomies fixated with 165 resorbable plates and 658 resorbable screws were done in another 30. The postoperative infection rate was 1.53% (3/196) and 1.82% (3/165) in the titanium and resorbable fixation groups, respectively. These infections were mainly due to loose screws and wound dehiscence. The plate exposure rate was 1.02% (2/196) for the titanium group and 1.21% (2/165) for the resorbable group. The plate removal rate in the titanium and resorbable groups was 1.53% (3/196) and 3.63% (6/165), respectively. Statistically significant difference was shown in the plating time of step (mandibular body) and Hofer (mandibular subapical) osteotomies. There was no significant difference in the subjective clinical parameters such as wound discomfort, clinical stability of the osteotomy segments, palpability of plate, and overall satisfaction of the results between the 2 fixation groups. Similarly, objective parameters including wound dehiscence, rate of infection, plate exposure, occurrence of sinus tract, and palpability assessed by surgeons in both groups also showed no significant difference. Conclusion Bioresorbable fixation devices offer similar function as titanium in fixation for orthognathic surgery and do not impose an increase in the clinical morbidities.

Many cases have been published on cherubism since Jones described it first time in three children of the same family [Am. J. Cancer 17 (1933) 946]. Cherubism is an autosomal-dominant disorder in which the normal bone is replaced by cellular fibrous tissue and immature bone. Extracranial skeletal involvement is rarely seen in hereditary and non-hereditary forms of the disorder. The mandible is the most severely affected craniofacial component, in which uncontrolled growth of the malady deteriorates the aesthetic balance of the face. Bilateral swelling of the cheeks, mandibular enlargement and maxillary spongious hypertrophy cause orbital manifestations and tendency of eyes looking up to the sky. Thus, the pathognomic clinical feature resembles the appearance of "raised to heaven" Renaissance cherubs. The sporadic case concerns a child affected by cherubism. Radiographic and clinical data of the patient are presented and brief review of the literature is included.

Objective The prevalence of infection with hepatitis B virus (HBV), hepatitis C virus (HCV), hepatitis G virus (HGV), and transfusion-transmitted viruses (TTV) was evaluated in patients with impacted teeth or jaw deformities. Study design Of 486 patients, 268 had serum samples available for retrospective TTV DNA and HGV RNA assays. In addition, the sera of 404 patients were assayed for HB surface antigen and the sera of 340 were assayed for HCV antibody. Results HGV RNA was detected in 3 of 268 patients (1.1%), and TTV DNA was detected in 60 of 268 (22.4%). Of 404 patients, 3 had HB surface antigens (0.7%). Furthermore, 13 of 340 were HCV-seropositive (3.8%). The rate of infection was similar between patients with impacted teeth and those with jaw deformities, respectively, as follows: 1.1% versus 0%, respectively, for HBV prevalence; 4.1% versus 3.2% for HCV prevalence; 1.8% versus 0% for HGV prevalence; and 22.9% versus 21.4% for TTV prevalence. Conclusions Universal precautions to prevent hepatitis and TTV infection during oral surgical procedures are important.

Aim: The aim of this study was to analyse jaw malformations and tooth displacement in patients with neurofibromatosis type 1 (NF1). Material and Methods: Forty-eight patients were included in the study (male or female 24 each). All fulfilled the current NIH diagnostic criteria for NF1. The age range was 2.5–66 years. The type of neurofibroma was histologically proven in surgically treated patients. Patients with disseminated cutaneous neurofibromata and those with the plexiform type were distinguished. The analysis was based on physical investigation, photographs, panoramic radiographs and dental casts. Results: With the emphasis on alterations of tooth position, deformities of the adjacent bones and malocclusion, the majority of these patients (26) were affected by plexiform neurofibromata. In the other 22 patients with disseminated neurofibromata, malformations of the alveolar ridge were absent and individual oral symptoms were rarely found and were mild, and in all cases were unimpaired. Numerical aberrations and retention of molars was exclusively associated with a trigeminal nerve affected by plexiform neurofibroma. Aplasia of a second lower molar was recognized in four of these plexiform-neurofibroma patients. Conclusion: It is widely accepted that malformations of the facial skeleton are often of genetic origin. However, in this study these malformations were strongly associated with plexiform neurofibromata originating from the trigeminal nerve. Thus, in addition to presently unknown genetic factors, the pattern of skeletal malformation can be caused by tumour invasion and local destruction, e.g. the neuromuscular unit or prenatal development of the plexiform neurofibroma in the inferior alveolar nerve. It is further concluded that epidemiologic studies on the incidence and severity of NF1 in the oral and maxillofacial region have to distinguish between patients with or without plexiform neurofibroma, especially when analysing alterations and deformities of the jaws, teeth and malocclusion. Aplasia of second inferior molars is an additional (dental) finding associated with plexiform neurofibromata in NF1.

The purpose of the study was to estimate familial correlations and heritability to evaluate familial aggregation patterns of maxillary midline diastemas. The sample consisted of 30 extended families: 15 black, 14 white, and 1 mixed race. A single ascertainment scheme was adopted to collect the sample. Family data were collected with a 7-question survey. In all, the sample of 430 subjects consisted of 220 females, 210 males, 99 nuclear families, 534 sibling pairs, 422 avuncular pairs, 318 grandparent pairs, and 27 cousin pairs. Families were stratified by race to avoid any bias. The mixed-race family was excluded from the analysis. Data were analyzed using the program REGC in the Statistical Analysis for Genetic Epidemiology (S.A.G.E., Case Western Reserve University, Cleveland, Ohio) software. Heritability was found to be 0.32 +/- 0.14 in the white sample and 0.04 +/- 0.16 in the black sample. The preliminary results suggest a possible genetic basis for maxillary midline diastema and a greater role of environmental factors in the black sample than in the white sample.

Syngnathia occurs when an ectopic membrane forms a fibrous or bony adhesion between the maxillary and mandibular alveolar processes. A case of congenital syngnathia is presented.

A 10-year-old girl was referred to our unit at Angelina Caron Hospital on July 27, 1999. She was the first child of healthy parents. The patients gave no history of former abnormalities in the family. The pregnancy was uneventful, and as far as can be ascertained, there was no exposure of the mother to teratogenic substances during the pregnancy. A general clinical examination revealed normal contour of the upper face and head (Figs 1, 2). The upper and lower lips were intact, but there was a midline cleft of the mandible, and the 2 halves were freely movable. The morphology and size of the tongue were within normal limits, but the tip was bound with soft tissue overlying the midline (ankyloglossia). The lower incisors were not present at the time of the examination. In addition, there was evidence of other skeletal deformities: larger spaces among the fingers of the hands and the absence of chin prominence clinically and radiologically. When asked to occlude, the patient, at a first trial, could occlude the left side. Then, when asked to clench hard, she could occlude the right side (Figs 3, 4) Radiographs confirmed the median cleft of the mandible. The mandibular left cuspid was in an abnormal position (Figs 5, 6). There also was agenesia of the lower incisors. Correction of the soft and hard tissues was performed at the same time. With the patient under general anesthesia, the tongue was released with a Z-plasty, and a frenectomy of the lingual frenulum was performed (Fig 7). After the frenectomy, an incision was made in the mandibular buccal sulcus between the cuspids, and a mucoperiosteal flap was raised. At the time of surgery, the left cuspid was extracted (Fig 8). Concerning correction of the bony defect, an autogenous iliac crest bone graft of 3 cm was planned. An occlusion as stable and functional as possible for the child’s age was selected. The bony defect was bridged with the autogenous iliac crest bone graft as described earlier. Rigid fixation was performed with 2 plates and 8 screws (Fig 9). No intermaxillary fixation was used. The postoperative course of the child was uneventful. After 6 months, the bone graft was well integrated with full union of the mandible. The tongue presents with normal movements. Occlusion is normal.

Hypoglossia-hypodactyly syndrome is characterised by small tongue associated with limb deficiency. It is an extremely rare condition with around 30 cases reported in world literature. We report a case of hypoglossia-hypodactyly syndrome that in addition to features already described also had supernumerary nipples, microcephaly and micropenis with cryptorchidism. Hypodactyly was symmetrical in all four limbs. These features have not been reported previously.

A new three-dimensional (3-D) model based system for preoperative planning, simulating the operation and transfer of the operation from 3-D model to patient (navigation) is to be introduced. A computer controlled digitizer with specially designed software enables 3-D measurement and symmetry analysis on the 3-D model with a precision better than 0.01 mm (SD: 0.05 mm, range: -0.2 to +0.04 mm). Translocations of the jaws during simulation are electronically registered with 6D-position sensors and displayed graphically and numerically on the PC screen (measurement accuracy 0.01 mm, 0.002 degrees). A precise transfer of positional data from the model to the patient in the operating theater is necessary if 3-D model operations are to be made. The position transfer (navigation) system to be introduced depends on a neurosurgical headframe on the patient, enabling an easy and three-dimensionally precise transfer of the planned jaw position to the patient. The three-dimensional precision of the positional transfer is 0.05 mm (SD: 0.144 mm, range: -0.36 to +0.69 mm). This new method allows for the first time exact three-dimensional simulation of operation and precise transfer to the patient. Especially in the case of asymmetric malformation and complex dysgnathia, the new method facilitates optimal symmetric and aesthetic results.

This study investigates maxillary dental arch width in subjects with palatally displaced canines. Pretreatment dental casts of orthodontic patients with one or both maxillary canines palatally displaced (n = 31; male, 10; female, 21) were collected. This sample was matched according to sex and age with pretreatment dental casts from unaffected orthodontic patients. Arch widths were recorded between the maxillary first premolars and between the maxillary first molars. Interpremolar arch width and intermolar arch width comparisons between the sample with palatally displaced canines and the reference sample showed no statistically significant differences in their means, thus indicating that there was no statistically significant difference in the anterior and posterior arch width between the affected subjects and the control subjects. Thus, affected patients exhibit adequacy of maxillary dental arch width. This evidence refutes earlier conclusions that deficiency in maxillary transverse arch width is an associated contributing factor in the genesis of the anomaly of palatally displaced canines. Clinically, adequacy of dental arch width helps explain the “nonextraction” diagnostic appearance of most of these patients when they present for treatment. (Am J Orthod Dentofacial Orthop 2000;118:220-3)

Objective. The purpose of this study was to conduct a complete analysis of orofacial abnormalities of patients with Turner syndrome. Study design. Twenty nine patients with Turner syndrome and 30 without Turner syndrome (control group) were studied. The subjects were screened for cariological and periodontal alterations, orthodontic anomalies, tooth crown morphologic condition, alveolar arch dimensions, and temporomandibular joint function. Results. Significantly lower mean values for decayed, missing, and filled teeth were found for patients with Turner syndrome as compared with the control group. Plaque and gingival indices were significantly higher in the study group. Orthodontic anomalies were more frequent and severe in patients with Turner syndrome. Our investigation showed reduced tooth crown size in the study group. The alveolar arch of the maxilla was narrower and of normal length, but the mandibular arch was shorter and broader. There was no significant alteration in temporomandibular joint function in the 2 examined groups. Conclusions. Our examination showed the importance of early diagnosis of oral anomalies and timely treatment of dental problems for patients with Turner syndrome.

After sagittal split osteotomy, osteosynthesis for stabilization of the fragments is usually performed by means of rigid or semirigid fixation to avoid maxillomandibular fixation (MMF). Sometimes, this leads to malpositioning of the fragments with resulting 'immediate relapse' or disturbances of the temporomandibular joints (TMJs) such as progressive idiopathic condylar resorption, which is the worst effect. We have therefore developed a new bone fixation system that allows three-dimensional adjustment even after fixation of the fragments. The special configuration of the system avoids intraoperative dislocation of the mandibular condyle. We have used the method successfully in 40 patients, 27 of whom had mandibular retrognathism and 13 of whom had mandibular prognathism. In particular, there has been no evidence of resorptive changes. There were no postoperative complications.

Gnathodiaphyseal dysplasia (GDD) is an orthopedic condition involving cemento-osseous lesions of jaw bones, sclerosis, bowing of tubular bones, and overall bone fragility. This is a case report of GDD in which an 18-year-old female presented with a several-year history of bony abnormalities of the jaw and long bones. Radiographs demonstrated endosteal thickening, bowing of long bones, and abnormalities of the skull. These findings, along with the patient's known maxillary region cementoma, led to a diagnosis of GDD.

Equine congenital dental deformities are not limited merely to those presented here; however, the examples discussed offer the reader an appreciation for the range of severity and complexity that may be found in affected horses. The veterinarian is obligated to provide the best possible care for the patient and to relieve animal suffering. The lack of definitive evidence for heritability of many of these defects can place the veterinarian in an untenable position, particularly when presented with literature that proclaims or suggests without evidence that a particular condition is inherited. In such cases, the veterinarian is encouraged to counsel owners, citing substantiated medical information, and to recommend that owners make the decision to eliminate the affected animals' ability to reproduce.

Anatomical, life-like, three-dimensional (3D) models have a definite place in cranio-maxillofacial surgery. Our experience with 541 computer tomography (CT)-based 3D models employed in aiding corrective surgery of tumours, dysgnathia, traumatology, alveolar atrophy, congenital malformation and asymmetrical malformations in our department is discussed. From July 1988 to February 1997, 3D models of 346 patients were used. Most of these were produced at our clinic. The indications, advantages and limitations of 3D-models were analysed retrospectively. In the case of congenital malformations (n = 60), models facilitated precise diagnosis of the skeletal deformity. Simulation surgery allowed prediction and solution of intraoperative problems prior to the actual patient operation. Size, shape and localization of defects caused by trauma (n = 64), osteoradionecrosis (n = 17) or osteomyelitis (n = 2) determined the choice of transplant donor site. In patients suffering from dysgnathia (n = 144), 3D models enabled exact positioning of the jaws. Precise planning could only be accomplished with the help of 3D models, especially for asymmetrical malformations (n = 12). In cases of severe atrophy of the alveolar crest (n = 45), exact measurement of the bone was possible and facilitated the decision as to whether dental implants, bone transplants or a combination of these were indicated. The positioning of transplants and implants was carried out in the ideal relation to the opposite jaw. In tumour patients (n = 186), it is not always possible to identify the tumour borders precisely on the CT scan or 3D model. Therefore, the defect was assumed to be bigger, a longer bridging plate constructed and this measurement corrected according to the intraoperative situation. The advantage of the 3D models consisted of an accurate representation of anatomical structures, bone or soft tissue. This allows precise preoperative diagnosis, operation planning and model operations. Due to this, the correct approach as well as operation technique could be chosen, outcomes of constant high quality were achieved, and there was a reduction in operation time.

Congenital fusion of the mandible and maxilla is a rare anomaly usually seen in association with various syndromes. Reports of isolated cases of bony fusion of the jaws are sparse. Only 10 reported cases were found in the literature search. Maxillomandibular fusion restricts mouth opening, causing feeding problems and difficulties in swallowing, respiration, growth, and development, and thus must be treated early. We report a case of congenital fusion of the mandible and maxilla in a 1-year-old boy and describe the clinical features of this anomaly to add to the existing literature on the subject. This is our second encounter of such a case.

There have been few attempts in the past at 3D computer modelling of facial deformity because of the difficulties with generating accurate three-dimensional data and subsequent image regeneration and manipulation. We report the application of computer aided engineering techniques to the study of jaw deformity. The construction of a 3D image of the mandible using a Ferranti co-ordinate measuring machine for data capture and the ‘DUCTS’ surface modelling programme for image regeneration is described. The potential application of this work will be discussed.

Summary This study presents a technique for surgically assisted, rapid maxillary expansion performed on 20 patients and the results after orthodontic treatment. The mean age of the patients was 36.3 years and on average they had been followed-up for 3 years and 6 months. The results seemed to be reliable long-term. The definitive expansion in the first molar region was 7.1 mm +/−2.4 and in the canine region 4.8 mm +/−2.7. The relapse measured after the observation period, was in the corresponding regions 1.2 mm +/−1.3 and 0.2 mm +/−2.1. The study also seemed to support the theory that the suture, anterior to the incisive canal, never ossifies until very late in life.