Paget's disease of jaw bones as primary manifestation: A case report of a proper diagnosis made by general dentist.

OBJECTIVE: To present a case of early diagnosis mandibular Paget's disease of bone (PDB), recognised by a general dentist. BACKGROUND: PDB is responsible of rapid bone resorption and disorganised bone formation. MATERIALS AND METHODS: The patient was a 72-year-old female patient complaining of dental malposition and blatant prognathism. CONCLUSION: Clinicians should consider PDB in differential diagnosis for an elderly patient undergoing unexplained alteration in face profile and occlusion.

Relationship between the cranial base and the mandible in artificially deformed skulls.

OBJECTIVES: There is controversy regarding the relationship between mandibular position and alterations of the cranial base that provoke a more anterior location of the glenoid fossa. Artificially deformed skulls display marked alterations of the cranial base. This study evaluates mandibular changes as function of the morphology of the cranial base in these skulls. MATERIAL AND METHODS: A geometric morphometric study was performed on lateral cephalometric X-rays of three groups of skulls: 32 with anteroposterior deformity, 17 with circumferential deformity and 39 with no apparent deformity. RESULTS: In artificially deformed skulls, the cranial base was deformed causing the mandibular condyle to be in a more anterior position. There was a complete remodelling of the mandible involving narrowing and elongation of the mandibular ramus, rotation of the corpus of the mandible and increased vertical height of the symphysis. Forward displacement did not occur. Integration between mandible and cranial base is not altered by deformation of the skull. CONCLUSIONS: Deformity of the cranial vault exerts an influence on the mandible, supporting the theory of modular units in complete integration. This also supports the theory that mandibular prognathism is a multifactorial result and not a direct effect of displacement of the cranial base.

MicroRNA expression profile of surgical removed mandibular bone tissues from patients with mandibular prognathism.

BACKGROUND: Mandibular prognathism (MP) or skeletal class III malocclusion with a prognathic mandible is one of the most severe facial deformities. Recent work has revealed certain circulating microRNAs (miRNAs) are associated with MP, we conducted this study to characterize the miRNAs expression profile in surgically removed mandibular bone tissue in patients with MP and explored the role of miRNA regulation in the pathogenesis of MP. METHODS: Affymetrix GeneChip miRNA 3.0 Array was used to examine the miRNA expression in mandibular bone tissues from MP patients and control subjects. A variety of bioinformatic approaches were used to predict the target genes of the miRNAs, find the potential functions and pathways of the target genes, analyze their intersection with differentially expressed mRNAs, and establish miRNA-gene network. RESULTS: Eleven upregulated and 11 downregulated miRNAs with a fold change ≥ 2 and a P value <0.05 were identified in bone specimens of MP patients. A total of 3569 genes were predicted as targets of hsa-miR-10a-5p, hsa-miR-150-5p, hsa-miR-192-5p, hsa-miR-194-5p, hsa-miR-197-3p, hsa-miR-30 d-5p, hsa-miR-342-5p and hsa-miR-629-5p, hsa-miR-1202, and hsa-miR-638. The target genes were predicted to be involved in biological functions and signaling pathways related to osteogenesis. Hsa-miR-30 d-5p was the key node of miRNA-gene network. CONCLUSIONS: Our results indicated a possible association between the differentially expressed miRNAs and MP pathogenesis, and the precise mechanisms are needed to be further validated.

A classification system for conditions causing condylar hyperplasia.

A classification system was developed to place patients with condylar hyperplasia (CH) into categories based on histology, clinical and imaging characteristics, effects on the jaws and facial structures, and rate of occurrence. Four major categories were defined. CH type 1 is an accelerated and prolonged growth aberration of the "normal" mandibular condylar growth mechanism, causing a predominantly horizontal growth vector, resulting in prognathism that can occur bilaterally (CH type 1A) or unilaterally (CH type 1B). CH type 2 refers to enlargement of the mandibular condyle caused by an osteochondroma, resulting in predominantly unilateral vertical overgrowth and elongation of the mandible and face. One of the forms has predominantly a vertical growth vector and condylar enlargement, but without exophytic tumor extensions (type 2A), whereas the other primary form grows vertically but develops horizontal exophytic tumor growth off of the condyle (CH type 2B). CH type 3 includes other rare, benign tumors and CH type 4 includes malignant conditions that originate in the mandibular condyle causing enlargement. The order of classification is based on occurrence rates and type of pathology, where CH type 1A is the most commonly occurring form and CH type 4 is the rarest. This classification system for CH pathology should help the clinician understand the nature of the pathology, progression if untreated, recommended ages for surgical intervention to minimize adverse effects on subsequent facial growth and development in younger patients, and the surgical protocols to comprehensively and predictably treat these conditions.

Upper spine morphology in hypophosphatemic rickets and healthy controls: a radiographic study.

BACKGROUND/OBJECTIVES: The aim of this study was to describe upper spine morphology in adult patients with hypophosphatemic rickets (HR) compared with controls to assess differences in spine morphology in terms of severity of skeletal impact and to study associations between spine morphology and craniofacial morphology. MATERIAL/METHODS: The study population comprised 36 HR patients and 49 controls. The atlas and axis dimensions were measured on cephalograms, and the differences between the groups were estimated by regression analysis. The upper spine morphology was visually assessed to estimate the prevalence of cervical vertebral anomalies. RESULTS: The dimensions of the atlas and the axis were larger in HR patients than in controls (P ≤ 0.001), and fusions (FUS) occurred more often in HR patients (39%) than in controls (6%; P ≤ 0.001). In HR patients, the length of the atlas correlated positively (P = 0.008) and the height of the dens correlated negatively (P = 0.043) with the severity of skeletal impact. The height of the posterior arch of the atlas and the length of the axis correlated negatively with the cranial base angle (P ≤ 0.017), and the vertical dimensions of the atlas correlated positively with the thickness of the occipital skull (P ≤ 0.015). The length of the atlas correlated positively with mandibular prognathism (P = 0.042). FUS correlated positively with the frontal and parietal thickness (P = 0.034 and P = 0.003, respectively). CONCLUSIONS: The dimension of the atlas and the axis and the prevalence of the FUS were increased in HR patients compared with controls. Upper spine dimensions were associated with craniofacial dimensions, primarily in relation to the posterior cranial fossa.

Young female with acromegaloid features and pituitary macroadenoma: what is your diagnosis?

Pseudoacromegaly is a extremely rare condition previously described and characterized by acromegaloid changes, tissue overgrowth, without elevations in insulin-like growth factor or growth hormone as seen in Acromegaly. We present the case of a young female seen initially with acromegaloid features and a pituitary microadenoma. After work-up the patient was diagnosed as insulin-mediated pseudoacromegaly. Only a few cases of pseudoacromegaly has been reported and should always be considered when evaluating patients for acromegaloid features with negative biochemical and hormonal levels.

Homocystinuria and oral health. A report of 14 cases.

The aim of this study was to explore the oral health in Swedish individuals with the diagnosis of homozygote cystathionine beta synthase-deficient homocystinuria (HC), a rare disorder of amino acid metabolism affecting connective tissue, in which the phenotypic abnormalities include dislocation of the optic lens, skeletal abnormalities, thromboembolic events, and sometimes mental retardation. Further aims were to evaluate the oral findings against previous oral observations in a medical case report, such as high narrow palate, mandibular prognathia, crowding and early eruption of teeth. Every hospital in Sweden was contacted, with the inquiry of patients with diagnosis of HC,which resulted in 14 individuals participating in oral clinical examination. The oral findings evaluated against previous medical case reports showed to be partly in accordance with previous observations. Dental health showed to be compromised in a majority of cases. Together with the fact that methionine restriction (low-protein diet) is involved in the treatment of the condition and might result in a diet high in sugars, this points out the role of regular dental checkups and preventive oral care for individuals suffering from HC. In addition, short dental roots were a finding not previously reported in the literature. All the studied cases had central maxillary incisors with short roots, when compared to reference values used.

Saethre-Chotzen syndrome: Case report and literature review.

Saethre-Chotzen syndrome (SCS) belongs to a group of rare congenital disorders connected with craniosynostosis and syndactyly. The purpose of this paper is to provide a review of the literature, to collect all reported symptoms and to describe the case of an 11-year-old female with SCS. The electronic databases PubMed and Scopus were searched to gain all symptoms of SCS described in the literature. The most common features of SCS described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and ocular hypertelorism. Less common symptoms include hearing loss, renal abnormalities and cardiac defects. Intraoral manifestations of SCS include maxillary hypoplasia, mandibular prognathism and high arched palate. Moreover, in some patients mental disability is observed, which may be connected with the size of the deletion in the Twist gene. There are no pathognomonic symptoms of SCS, which would indicate a diagnostic problem. Our patient displayed small dysmorphic changes within the skull and limbs and proper intellectual development. On the basis of an intraoral, extraoral examination and X-rays, she was diagnosed with relative mandibular prognathism. Currently, she is treated with a removable appliance. This report emphasizes a considerable variability of symptoms in SCS and highlights the most common features.

Acromegaly in an orthodontic patient.

A 32-year-old white man presented for orthodontic treatment with the chief complaint of mandibular prognathism; he was later found to have acromegaly. General information about pituitary adenomas, specifically growth hormone adenomas, is given, and treatment options are discussed.

Cephalometric evaluation of maxillomandibular relationships in patients wearing complete dentures: a pilot study.

The purpose of this study was to evaluate the changes in vertical and sagittal maxillomandibular relationship of the patients who had been wearing dentures for an extensive period. Fifteen edentulous patients (seven men and eight women; mean age 63.5 years) who had worn dentures for six to 16 years (mean 10 years) were selected for this study. New prostheses were fabricated by conventional methods, and the patients were evaluated cephalometrically before and after the new prosthesis. The results were compared by Wilcoxon signed rank test (P < .05). Results indicated that a prognathic mandible and a pseudo Class III relationship with a reduced occlusal vertical dimension became a normal Class I maxillomandibular relation when the new prosthesis was inserted. A better facial profile was achieved.

Manejo integral estético de una anomalía dentofacial / Comprehensive esthetic management of a dentofacial anomaly

RESUMEN Introducción: Las anomalías dentofaciales son trastornos del crecimiento dental y facial que afectan tanto a niños como a adultos. Objetivo: Presentar un caso clínico, en que en la búsqueda de armonía, por una anomalía dentofacial, se aplicaron principios del manejo multidisciplinario de cirugía ortognática y de otoplastia. Caso clínico: Paciente masculino de 18 años de edad que refiere inconformidad estética y en el que, mediante el análisis de modelos de estudio, mediciones de las telerradiografías indicadas y los hallazgos del examen físico, se llegó al diagnóstico de prognatismo mandibular con exceso vertical del mentón. Se ejecuta tratamiento ortodóncico-quirúrgico, realizándose osteotomía sagital mandibular y mentonoplastia de reducción de altura. Se emplearon como medios de fijación interna los tornillos bicorticales en la zona de ángulo mandibular y miniplacas en la región del mentón. Tres meses después se realizó otoplastia, para corregir la presencia de orejas prominentes, con el logro de un resultado funcional y estético satisfactorio. Conclusiones: Con la aplicación de los principios del manejo multidisciplinario de cirugía ortognática, combinada con la realización de una otoplastia, los resultados fueron positivos. Se alcanzó el objetivo de brindar armonía facial, con mejoría funcional y estética, y una alta satisfacción del paciente(AU)

ABSTRACT Introduction: Dentofacial anomalies are dental and facial growth disorders affecting children and adults alike. Objective: Present a clinical case of dentofacial anomaly in which principles of the multidisciplinary management of orthognathic surgery and otoplasty were applied to achieve harmony. Case report: A male 18-year-old patient reports esthetic dissatisfaction. Analysis of study models, measurements taken by teleradiography and findings of the physical examination led to the diagnosis of mandibular prognathism with a vertically extended chin. Orthodontic-surgical treatment was performed, consisting in sagittal mandibular osteotomy and height reduction mentoplasty. Bicortical screws were used for internal fixation in the mandibular angle area and miniplates in the chin region. Otoplasty was performed three months later to correct the presence of protruding ears, achieving satisfactory functional and esthetic results. Conclusions: Application of the principles of the multidisciplinary management of orthognathic surgery, combined with the conduct of otoplasty, led to positive results. The objective of achieving facial harmony was fulfilled, alongside functional and esthetic improvement and high patient satisfaction(AU)

Familial choanal atresia with maxillary hypoplasia, prognathism, and hypodontia.

We report on two sibs and a cousin with bilateral choanal atresia. At 2 months, one sib died of complications following surgical correction of her defects. We evaluated her brother and cousin at age 7 and 9 years, respectively. Both had a tall forehead, maxillary hypoplasia, prognathism, and absence of certain deciduous and permanent teeth. Psychomotor development was appropriate for age. Roentgenocephalometric analyses of several relatives showed that one grandfather of these children and two of the five uncles and aunts also had maxillary hypoplasia and/or prognathism. To our knowledge, this condition has not been described previously and may represent a newly recognized autosomal dominant condition with incomplete penetrance and variable expressivity caused by a defect of neural crest development.

Tongue volume in human female adults with mandibular prognathism.

It has often been hypothesized that a large tongue leads to an enlargement of the mandible and therefore contributes to the development of mandibular prognathism. We examined (1) whether the tongue volume in human subjects with mandibular prognathism was larger than that in subjects with good occlusion and (2) whether the tongue volume and the pharyngeal capacity correlated with the morphological characteristics of dento-skeletal structures. Magnetic resonance images of the tongue and its surrounding structures were recorded for female adult volunteers with good occlusion (control group, n = 10) and patients with mandibular prognathism (test group, n = 16). Lateral cephalograms were obtained for the patients. No significant differences were determined for the tongue volume or the pharyngeal capacity between the two groups. The tongue volume did not correlate with the pharyngeal capacity (r = 0.280, p = 0.166). The tongue volume correlated with the facial angle (r = 0.548, p = 0.028), the Y-axis (r = 0.539, p = 0.031), and the angle nasion-A point-pogonion (r = 0.540, p = 0.031). These results suggest that the tongue volume is accounted for by the combined horizontal and vertical location of the chin and symphysis, but do not support the conventional clinical surmise that large tongue volume is inherent in patients with mandibular prognathism.

A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty-two patients.

In a clinical, radiological and biochemical study of forty-two patients from Oxford with osteogenesis imperfecta, it was found that patients could be divided simply into mild, moderate and severe groups according to deformity of long bones. In the severe group (seventeen patients) a family history of affected members was uncommon and fractures began earlier and were more frequent than in the mild group (twenty-two patients); sixteen patients in the severe group had scoliosis and eleven had white sclerae; no patients in the mild group had white sclerae or scoliosis. Radiological examination of the femur showed only minor modelling defects in patients in the mild group, whereas in the severe group five distinct appearances of bone (thin, thick, cystic and buttressed bones, and those with hyperplastic callus) were seen. The polymeric (structural) collagen from skin was unstable to depolymerisation in patients in the severe group, but normal in amount, whereas the reverse was found in the mild group. This division according to long bone deformity may provide, a basis for future research more useful than previous classifications.

Hajdu-Cheney syndrome (acro-osteolysis): a case report of dental interest.

Hajdu-Cheney syndrome (acro-osteolysis) is a rare disorder of bone metabolism characterized by progressive lytic lesions in a number of bones. Constant features of this condition include an osteoporotic skeleton, acro-osteolysis, and a shortened lower third of face. The purpose of this report was to focus on the craniofacial and oral manifestations of the disorder in a 9-year-old boy.

Oral and craniofacial findings in Fabry's disease: a report of 13 patients.

OBJECTIVE: Fabry's disease is an X-linked metabolic disease caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. The purpose of this study was to assess oral and craniofacial findings in a cohort of patients with Fabry's disease to facilitate recognition of this condition and early treatment of its manifestations. STUDY DESIGN: This is a case series describing oral and craniofacial findings of 13 male patients diagnosed with Fabry's disease. Data were collected by means of a standardized questionnaire, clinical examination, panoramic and cephalometric radiographs, and magnetic resonance imaging. RESULTS: A variety of abnormalities are described, including an increased prevalence of cysts/pseudocysts of the maxillary sinuses (PCMs) and the presence of maxillary prognathism. CONCLUSION: Given the high prevalence of oral and dental abnormalities, we recommend a thorough stomatologic evaluation of these patients.

Acromegaly identified in a patient with a complaint of malocclusion.

Acromegaly in a female patient was first diagnosed after a dental examination at which time the patient complained of the inability to incise properly. An elevated serum growth hormone level and enlarged sella turcica confirmed the diagnosis of acromegaly. Based on examination of her plaster study models, it was apparent the patient had been developing a change in her dentition for years.