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)

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.

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.

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.

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.

Assessment of the impact of tongue size in patients with bimaxillary protrusion.

BACKGROUND: Tongue size, posture and pressure are considered to have significant influences on the positioning of dentoalveolar structures. Based on the equilibrium theory, forward resting posture of the tongue with light force and long duration could have both a horizontal and vertical effect on teeth. Bimaxillary proclination, a malocclusion trait often seen in African descents with multifactorial etiological factors, could well be related to tongue dimensions. OBJECTIVES: The aim of this study was to evaluate the relationship between tongue dimensions and bimaxillary proclination patients. METHODOLOGY: One hundred selected lateral cephalometric radiographs of consecutive orthodontic patients who met the study criteria were divided into study (bimaxillary proclination with interincisal angle [I/I]< 108°) and control (normal with interincisal relationship [I/I] ≥ 108°) groups. The subjects' tongues were pre-coated with barium sulphate before radiography in order to delineate the tongue outline. Tongue dimensions and the intermaxillary space surface area were determined and analyzed using SPSS version 11 and a computer programme for epidemiological analysis. RESULTS: The mean tongue measurements in the bimaxillary proclination group were higher than those in the control group except for tongue proportion. These differences were statistically significant for tongue thickness, tongue length and intermaxillary space length (P < 0.05). However, there was no statistically significant difference in the tongue area and intermaxillary space area between subjects with bimaxillary proclination and a normal interincisal relationship (P > 0.05). None of the variables (tongue thickness, tongue length, intermaxillary space length, tongue area and percentage tongue proportion) could be used as predictors for interincisal relationship. CONCLUSION: Tongue length, thickness and intermaxillary space length were significantly different between the bimaxillary and normal subjects. However, none of the measured tongue variables could be used as a predictor for incisor relationship.

Dental findings and special care in patients with Angelman syndrome: a report of three cases.

Angelman syndrome (AS) is a neurogenetic disorder, characterized by intellectual disability, movement or balance disorders, specific abnormal behaviors, and severe speech and language limitations. Due to its low incidence and the nonspecifity of developmental problems in newborns and young children, AS is not easily identified by clinical pediatricians. The aim of this paper is to present three cases of AS, reporting the orofacial characteristics and requisite dental care in these patients. Interestingly, this investigation found that certain typical features of mouth breathing syndrome, such as long and narrow faces, open mouth, shortened upper lip, lowered mandible position, shadows under the eyes (infraorbital cyanosis), muscular hypotonia, and enlarged and anteriorized tongue, were present in the three studied AS patients.

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.

Facial morphology and occlusion of a patient with fibrodysplasia ossificans progressiva (FOP): a case report.

Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by postnatal heterotopic ossification (HO). When HO affects the masticatory muscles, mouth opening becomes restricted. This paper presents the changes in facial morphology and occlusion of a patient with FOP who was followed from the age of 8 to age 21. At the initial examination, he had a severely protruded maxilla and Angle Class II Division 1 malocclusion. His mouth opening was restricted (5.0 mm). He had a large overjet and this enabled him to clean his teeth and to eat. Orthodontic correction was not planned, and his facial growth was closely followed with attention to his oral hygiene. The maxillary protrusion and a low mandibular plane angle became more prominent as the patient aged. His mandible rotated in a counterclockwise direction. His molars had delayed eruption or were impacted and seven were extracted. His mouth opening increased slightly and his oral hygiene improved to excellent.

Estudo cefalométrico prospectivo dos efeitos da terapia de tração reversa da maxila associada à mecânica intermaxilar / Prospective cephalometric study of the effects of maxillary protraction therapy associated with intermaxillary mechanics

OBJETIVO: o diagnóstico e o tratamento precoce do Padrão III são temas ainda muito discutidos na literatura ortodôntica. A tração reversa associada à expansão rápida da maxila constitui a abordagem mais popular e estudada, produzindo os melhores resultados no menor período de tempo. O foco deste estudo foi avaliar as mudanças gradativas ocorridas no complexo dentofacial em crianças com Padrão III de crescimento tratadas com tração reversa da maxila associada à mecânica intermaxilar. MÉTODOS: a amostra foi constituída por 10 pacientes Padrão III, com média de idade de 8 anos e 2 meses ao início do tratamento, tratados consecutivamente com aparelho expansor de Haas modificado, arco lingual modificado, elásticos intermaxilares e máscara de Petit para tração reversa da maxila por 9 meses. Foram realizadas 4 telerradiografias em norma lateral de cada paciente, uma correspondente ao início do tratamento e as demais em intervalos regulares de 3 meses (T1, T2, T3 e T4). As grandezas cefalométricas foram comparadas entre os tempos através de Análise de Variância de Medidas Repetidas, complementada pelo Teste de Comparações Múltiplas de Tukey. RESULTADOS: pôde-se observar que as alterações esqueléticas mais significativas ocorreram nos primeiros 3 meses de tratamento, sendo que, após esse período, elas se mantiveram constantes até o final do tratamento. Ocorreram poucas compensações dentárias e as alterações verticais ocorridas apresentaram significado clínico reduzido. CONCLUSÃO: a terapia empregada obteve não só uma correção do trespasse horizontal entre as arcadas, mas também uma melhora no relacionamento sagital entre as bases ósseas e na estética tegumentar.

OBJECTIVE: The early diagnosis and treatment of skeletal Class III (Pattern III) is still a much debated topic in orthodontic literature. Maxillary protraction associated with rapid maxillary expansion is the most popular and widely researched approach, producing the best results in the shortest period of time. This study aimed to evaluate the gradual changes that occur in the dentofacial complex in children with Pattern III growth treated with maxillary protraction associated with intermaxillary mechanics. METHODS: The sample consisted of 10 patients with Pattern III, whose mean age was 8 years and 2 months at the beginning of treatment, consecutively treated with a modified Haas expander, modified lingual arch, intermaxillary elastics and Petit facemask for maxillary protraction during a 9-month period. Four lateral cephalograms were taken of each patient, one at the beginning of treatment and the other three at regular 3-month intervals (T1, T2, T3 and T4). Cephalometric measurements at each of the four times were compared using ANOVA variance for repeated measures and supplemented by Tukey's multiple comparisons test. RESULTS: It was observed that the most significant skeletal changes occurred in the first 3 months of treatment. After that period the changes remained constant until the end of treatment. There were few dental compensations and the vertical changes which occurred showed reduced clinical significance. CONCLUSIONS: The therapy used in this study accomplished not only the correction of overjet but also improvements in the sagittal relationship of the basal bones and in soft tissue esthetics.

Pharyngeal airway in children with prognathism and normal occlusion.

OBJECTIVE: To test the hypothesis that there is no difference in the pharyngeal airway width and the position of the maxillofacial skeleton between prognathic and normal children. MATERIALS AND METHODS: Twenty-five girls with prognathism (mean, 7.9 ± 0.9 years old) and 15 girls with normal occlusion (mean, 8.4 ± 1.5 years) participated in this study. On each girl's lateral cephalogram, the coordinates of all points were marked and systematically digitized using a mechanical three-dimensional digitizing system. An independent-groups t-test was used to detect significant upper and lower pharyngeal width differences between the two groups. Correlations between the horizontal positions of each point and upper and lower pharyngeal widths were examined. RESULTS: Prognathic girls had a significantly wider lower pharyngeal airway compared with those with normal occlusion (P = .01). Furthermore, the horizontal coordinate of Ar was significantly positively correlated with lower pharyngeal airway width in both groups of girls. CONCLUSIONS: The hypothesis is rejected. The mandible in prognathic girls tends to be positioned more anteriorly, resulting in a wider lower pharyngeal airway.

Polymorphisms in the Matrilin-1 gene and risk of mandibular prognathism in Koreans.

Previous linkage analysis of an Asian population proposed possible candidate genes for mandibular prognathism, such as Matrilin-1 (cartilage matrix protein). To investigate the association between the single-nucleotide polymorphisms (SNPs) in Matrilin-1 and mandibular prognathism, we investigated three sequence variants (-158 T>C, 7987 G>A, 8572 C>T) in 164 mandibular prognathism patients and 132 control individuals with a normal occlusion. The results showed that the 8572 TT genotypes in Matrilin-1 showed increased risk of mandibular prognathism (OR = 9.28, 95% Cl = 1.19~197.57, P < 0.05), whereas the 7987 AA genotype showed a protective effect for mandibular prognathism (OR = 0.16, 95% Cl = 0.05~0.47, P < 0.05). Genotyping results showed that the Matrilin-1 polymorphism haplotype TGC (ht4; 158T, 7987G, and 8572C alleles) had a pronounced risk effect for mandibular prognathism compared with controls (OR = 5.16, 95% Cl = 2.03~13.93, P < 0.01). The results suggest that polymorphisms in Matrilin-1 could be used as a marker for genetic susceptibility to mandibular prognathism.

Mandibular prognathism caused by acromegaly - a surgical orthodontic case.

A 22-year-old man presented for orthodontic surgery because of mandibular prognathism. Clinical symptoms suggested acromegaly, and diagnosis was verified by an endocrinologist as well as by radiograph. Bilateral mandibular prognathism often represents the first and most striking physical characteristic of acromegaly; usually, it is also the main reason why patients seek help from orthodontists or maxillo-facial surgeons. This case report recapitulates the clinical and histopathological findings in pituitary growth hormone (GH) adenomas and emphasises their importance in surgical orthodontic planning. Mandibular prognatism, macroglossia and abnormal growth of hands and feet represent strong indicators for the diagnosis of acromegaly. This disease and its complications not only affect the entire body but increase mortality if the pituitary gland tumour remains untreated.

Craniometaphyseal dysplasia: a case report.

Craniometaphyseal dysplasia (CMD) is a rare genetically transmitted bone dysplasia characterized by alterations in the development of the craniofacial bones with abnormal remodeling of the metaphyses. Sclerosis of the skull bones can lead to cranial nerve compression that finally may result in hearing loss and facial palsy. CMD occurs in an autosomal dominant (AD) (MIM 123000) and an autosomal recessive (AR) form (MIM 218400). Sclerosis of cranial bones is usually much more severe in the AR form. We present a 36-year-old male with a previous diagnosis of Paget disease. The examination reveals prognathism, ocular hypertelorism, mixed bilateral hypoacusia, nasal bossing, a class III malocclusion and a narrow palatal vault. The patient necessitated several dental extractions, surgical procedures were conducted, and a biopsy of the alveolus was performed and the sample underwent histological examination. The histological report led to an exclusion of the previous diagnosis of Paget disease. The final diagnosis of autosomal dominant CMD was confirmed by the molecular testing of the CMD gene (ANKH).