Múltiples Dientes Supernumerarios en Paciente Pediátrico No Sindrómico. Una Revisión de la Literatura y Presentación de Caso Clínico / Multiple Supernumerary Teeth In A Non-Syndromic Pediatric Patient. A Review Of The Literature and Presentation of a Clinical Case

Aquellos casos en que se excede la fórmula dentaria normal primaria de 20 dientes o definitiva de 32 dientes se conocen como dientes supernumerarios o hiperodoncia. Los supernumerarios se pueden presentar de manera única o múltiple y de forma heteromórfica o eumórfica. El supernumerario más prevalente es el mesiodens, se da más en hombres, en dentición permanente y en el maxilar. Su etiología no está confirmada, pero puede deberse a una hiperactividad de la lámina dental. El tratamiento varía de acuerdo a cada paciente según si está afectando a la dentición normal o no y el desarrollo que tengan las estructuras dentarias. El siguiente reporte de caso habla de un paciente de 6 años, no sindrómico, en donde se presentó con un mesiodens erupcionado y se encontraron más supernumerarios gracias a la radiografía complementaria.

Those cases in which the primary normal dental formula of 20 teeth or the final one of 32 teeth is exceeded are known as supernumerary teeth or hyperdontia. The supernumeraries can be presented in a single or multiple way and in a heteromorphic or eumorphic way. The most prevalent supernumerary is the mesiodens, it occurs more in men, in the permanent dentition and in the maxilla. Its etiology is not confirmed, but it may be due to hyperactivity of the dental lamina. The treatment varies according to each patient depending on whether it is affecting the normal dentition or not and the development of the dental structures. The following case report talks about a 6-year-old, non- syndromic patient, who presented with an erupted mesiodens and more supernumeraries were found thanks to the complementary radiography.

Radix em molares decíduos inferiores: revisão sistemática com metanálise / Radix in lower primary molars: systematic review with meta-analysis

Objective: To estimate the prevalence of three roots in deciduous mandibular molars. Methodology: Electronic searches were carried out in PubMed and Scopus to identify cross-sectional studies published up to September 2023. The Joanna Briggs Institute tool was used to critically appraise the studies. STATA 16.0 was used to generate risk of bias figures and perform the meta-analysis. Results: Eighteen studies evaluating 9,067 patients (8,969 first molars and 10,765 second molars) were included in this review. The overall prevalence of radix in mandibular deciduous molars was 9.61% (3.67% for first molars and 18.72% for second molars). The prevalence rate of teeth diagnosed using Cone Beam Computed Tomography (CBCT) was similar to the diagnoses made using conventional radiographic techniques together (periapical, interproximal and panoramic). Final considerations: Lower deciduous molars with three roots have a prevalence of almost 10%, with a higher prevalence in second molars. The diagnosis of this morphological alteration can be made using conventional radiographic techniques, but the use of CBCT is recommended.(AU)

Objetivo: estimar a prevalência de três raízes em molares inferiores decíduos. Metodologia: foram realizadas buscas eletrônicas na PubMed e Scopus para identificar estudos transversais publicados até setembro/2023. Para a avaliação crítica dos estudos foi utilizada a ferramenta do Instituto Joanna Briggs. STATA 16.0 foi usado para gerar figura do risco de viés e realizar a metanálise. Resultados: dezoito estudos que avaliaram 9.067 pacientes (8.969 primeiros molares e 10.765 segundos molares) foram incluídos nesta revisão. A prevalência global de radix em molares decíduos inferiores foi de 9,61% (3,67% para primeiros molares e 18,72% para segundo molares). A taxa de prevalência de dentes com diagnóstico através de Tomografia Computadorizada Cone Beam (TCCB) foi semelhante aos diagnósticos realizados pelas técnicas radiográficas convencionais em conjunto (periapical, interproximal e panorâmica). Considerações finais: os molares decíduos inferiores com três raízes têm uma prevalência de quase 10%, com maior prevalência em segundo molares. O diagnóstico desta alteração morfológica pode ser feito através das técnicas radiográficas convencionais, porém recomenda-se a utilização de TCCB.(AU)

Músculo Esternal Bilateral, Descripción de un Caso e Implicancias Clínicas / Bilateral Sternal Muscle, Description of a Case and Clinical Implications

El músculo esternal corresponde a una variante muscular supernumeraria de la musculatura torácica, cuya descripción más antigua se remonta al año 1604. A lo largo de la historia ha sido denominado músculo "epiesternal", "preesternal", "recto torácico" o "recto esternal". Se ubica entre la fascia superficial y el músculo pectoral mayor, tiene una prevalencia de entre 3 % y 8 % en la población general, se presenta de forma unilateral o bilateral exhibiendo una alta variabilidad interracial y puede ser motivo de dilemas diagnósticos durante cirugías y exámenes de imagen. Disección en un cadáver adulto de sexo masculino. Se encontraron dos músculos esternales conectados superiormente por un tendón central. El músculo esternal derecho se extendía desde el manubrio esternal hasta el séptimo cartílago costal derecho. El músculo esternal izquierdo se extendía desde el manubrio esternal hasta el sexto cartílago costal izquierdo. Su inervación estaba dada por ramos cutáneos anteriores de los nervios intercostales y su vascularización por ramas perforantes provenientes de los vasos torácicos internos. El músculo esternal presenta una alta variabilidad morfológica y su prevalencia se ve influenciada por factores raciales. Conocer esta variación muscular enriquece la capacidad diagnóstica y quirúrgica reduciendo la posibilidad de iatrogenia.

SUMMARY: The sternal muscle corresponds to a supernumerary muscle variant of the thoracic musculature, whose oldest description dates to 1604. Throughout history it has been called the "episternal", "presternal", "rectus thoracis" or "rectus sternalis" muscle. It is located between the superficial fascia and the pectoralis major muscle, has a prevalence of between 3 % and 8 % in the general population, presents unilaterally or bilaterally, exhibits a high interracial variability and can be the cause of diagnostic dilemmas during surgery and imaging examinations. Dissection in an adult male cadaver. Two sternal muscles were found connected superiorly by a central tendon. The right sternal muscle extended from the sternal manubrium to the right seventh costal cartilage. The left sternal muscle extended from the sternal manubrium to the left sixth costal cartilage. The innervation was given by anterior cutaneous branches of the intercostal nerves and the vascularization by perforating branches coming from the internal thoracic vessels. The sternal muscle presents a high morphological variability and the prevalence is influenced by racial factors. Knowing this muscle variation enriches the diagnostic and surgical capacity, reducing the possibility of iatrogenesis.

Clinical application of a digital positioning guide template during the extraction of maxillary wholly impacted supernumerary teeth / 口腔疾病防治

Objective@#To evaluate the clinical efficacy of positioning guide templates for maxillary wholly impacted supernumerary teeth to provide technological solutions for clinical applications. @*Methods @#After approval by the hospital ethics committee and informed consent given by the patients. Data from 136 patients with maxillary wholly impacted supernumerary teeth from January 2016 to April 2022 were analyzed retrospectively. The patients were divided into two groups according to the usage of the positioning guide template. The experimental group included patients using the positioning guide template (71 cases), and the control group did not use the positioning guide template (65 cases). The operation time and complications were statistically analyzed to evaluate the clinical efficacy after surgery. @*Results @# All operations were successfully completed. The average operation time in the experimental group was (21.5 ± 3.4) min, significantly shorter than that in the control group (27.2 ± 4.9) min. There were statistically significant differences between the experimental and control groups (t = 7.599, P<0.001). One week after the operation, there were no complications in the experimental group, and there were 2 cases of adjacent tooth injury and 3 cases of gingival numbness in the control group.@* Conclusion @# A digital positioning guide template can effectively shorten the time of maxillary wholly impacted supernumerary teeth extraction and is an effective means to assist clinical maxillary wholly impacted supernumerary teeth extraction.

Analysis of congenital deciduous teeth absence and its permanent teeth phenotype / 华西口腔医学杂志

OBJECTIVES@#This study aimed to investigate the clinical characteristics of congenital deciduous teeth absence and its permanent teeth performance type by using panoramic radiographs.@*METHODS@#A total of 15 749 panora-mic radiographs of 3-6-year-old children with deciduous dentition were collected from January 2020 to December 2021. The incidence of congenital deciduous teeth absence was observed, and the abnormality of permanent teeth was recor-ded. SPSS 24.0 software was used for statistical analysis.@*RESULTS@#The incidence of congenital deciduous teeth absence was 2.54% (400/15 749), which was found in 217 girls and 183 boys, and the difference between the genders was statistically significant (P=0.003). The absence of one and two deciduous teeth accounted for 99.75% (399/400) of the subjects. In addition, 92.63% (490/529) of mandibular deciduous lateral incisor was congenitally absent, 44.80% (237/529) of deciduous teeth was absent in the left jaw, and less than 55.20% (292/529) was absent in the right; the difference between them was statistically significant (P=0.017). The absence of 96.41% (510/529) deciduous teeth in the mandibular was significantly more than that of 3.59% (19/529) in the maxillary, and the difference between was statistically significant (P=0.000). Furthermore, 68.00% (272/400) and 32.00% (128/400) of deciduous teeth were absent in unilateral and bilateral, respectively, and the difference was statistically significant (P=0.000). Four types of congenital deciduous teeth absence with permanent teeth were observed as follows: 1) 73.91% (391/529) of permanent teeth was absent; 2) 20.60% (109/529) of permanent teeth was not absent; 3) the number of fused permanent teeth accounted for 4.91% (26/529); 4) the number of supernumerary teeth was 0.57% (3/529).@*CONCLUSIONS@#Although the absence of congenital deciduous teeth is less common than that of permanent teeth, it affects deciduous and permanent teeth to some extent. Dentists should pay attention to trace and observe whether abnormalities are present in the permanent teeth and take timely measures to maintain children's oral health.

Repeatedly Recurrent Supernumerary Bilateral Fibroadenoma Breast with Family History of Breast Cancer in a Young Girl: A Surgeon’s Dilemma

More than 4 fibroadenomas in a single breast are uncommon. Repeated recurrences of supernumerary fibroadenomas, in multiple numbers, after excision, are extremely rare. The malignant potential of breast fibroadenoma increases significantly in women with complex fibroadenomas, proliferative disease or a family history of breast cancer. Such a condition poses a management dilemma to the surgeon. Prophylactic bilateral mastectomy is controversial, and requires a rigorous assessment of risk benefit ratio and a better assessment of psychosocial impact and ethical issues. More often than not, the patient prefers repeat excision and close surveillance as the most agreeable course of action; the relatively higher risk of malignancy notwithstanding. Repeated excision as new fibroadenomas appear seems to be a feasible option.

Prevalence and Patterns of Supernumerary Teeth in a Peruvian Non-Syndromic Population: A Radiographic Study

ABSTRACT: This study aims to evaluate the prevalence and patterns of supernumerary teeth in a Peruvian non- syndromic population. This retrospective study used 2500 panoramic radiographs from the archives of a radiology center from Tacna-Peru. Radiographs were taken in 2019 and corresponded to subjects with ages between 8 to 22 years. The patterns of the supernumerary teeth were recorded in a checklist. Descriptive statistics was used for the distribution of supernumerary teeth. The Chi-square test was used to compare the distribution between the patterns. A confidence level of 5 % was used. The prevalence of supernumerary teeth was 5.32 % (n=133), with a male: female ratio of 1.56:1. The most affected arch was the maxilla (79.7 %), single presentation was the most common (87.22 %), and no differences were observed by gender (p > 0.05). Mesiodens was the most frequent (53.38 %), followed by parapremolar (34.59 %) in both genders (p > 0.05). According to the morphology, conical presentation was presented in 46.62 % of the cases, and impacted status were seen in 69.92 %. There were significance differences when the distribution of morphology was compared by the affected arch (p < 0.05). Conical form was most common in the maxilla (53.77 %), meanwhile in the mandible was the euromorphic type (40.74 %). A prevalence of supernumerary teeth of 5.32 % was estimated. The most frequent affected arch was the maxilla. Mesiodens, conical type and impacted were the most frequent patterns.

RESUMEN: Los dientes supernumerarios son anomalías del desarrollo dentario y se pueden clasificar según diferentes patrones. Este estudio tiene como objetivo evaluar la prevalencia y patrones de dientes supernumerarios en una población peruana no sindrómica. Este estudio retrospectivo utilizó 2500 radiografías panorámicas de los archivos de un centro de radiología de Tacna-Perú. Las radiografías se tomaron en 2019 y correspondieron a sujetos con edades entre 8 y 22 años. Los patrones de los dientes supernumerarios se registraron en una lista de verificación. Se utilizó estadística descriptiva para describir la distribución de dientes supernumerarios. Se utilizó la prueba de Chi-cuadrado para comparar la distribución entre los patrones. Se utilizó un nivel de confianza del 5 %. La prevalencia de dientes supernumerarios fue de 5,32 % (n = 133), con una relación hombre: mujer de 1,56:1. El arco más afectado fue el maxilar (79,7 %), la presentación única fue la más común (87,22 %) y no se observaron diferencias por sexo (p > 0,05). Mesiodens fue el más frecuente (53,38 %), seguido del parapremolar (34,59 %) en ambos sexos (p > 0,05). Según la morfología, la presentación cónica se presentó en el 46,62 % de los casos y el estado impactado en el 69,92 %. Hubo diferencias significativas cuando se comparó la distribución de la morfología por arco afectado (p < 0,05). La forma cónica fue más común en el maxilar (53,77 %), mientras que en la mandíbula fue el tipo euromórfico (40,74 %). Se estimó una prevalencia de dientes supernumerarios de 5,32 %. El arco afectado con mayor frecuencia fue el maxilar. Los mesiodens, tipo cónico e impactado fueron los patrones más frecuentes.

Síndrome del nervio dorsal escapular en un adulto / Dorsalscapular nerve syndrome in an adult

Se presenta el caso clínico de un paciente de 47 años de edad, quien acudió al Servicio de Ortopedia y Traumatología del Hospital Docente Clinicoquirúrgico Joaquín Albarrán de La Habana por presentar dolor en el cuello irradiado al miembro superior izquierdo. En la exploración física se destacó atrofia de los músculos romboides de la escápula izquierda y deformidad alar, acentuada durante la maniobra. Se realizó radiografía y electromiografía; en la primera, se observó costilla cervical supernumeraria izquierda y, en la segunda, lesión del nervio dorsal escapular, por lo cual se diagnosticó síndrome del nervio dorsal escapular secundario a síndrome del escaleno anterior. Se indicó tratamiento fisioterapéutico y el paciente evolucionó satisfactoriamente.

The case report of a 47 years patient is presented, who went to the Orthopedics and Traumatology Service of Joaquín Albarrán Teaching Clinical Surgical Hospital in Havana due to a pain in the neck irradiated to the left superior member. In the physical exploration atrophy of the left scapula romboid muscles and alar deformity were notable, accented during the maneuver. Radiography and electromyography were carried out; in the first one, left supernumerary cervical rib was observed and, in the second one, dorsalscapular nerve leison, reason why the secondary dorsal scapular nerve syndrome to anterior scalene syndrome was diagnosed. Physiotherapeutic treatment was indicated and the patient had a favorable clinical course.

Abordaje Transoral para la Extracción de un Diente Supernumerario Intranasal. Presentación de un Caso y Revisión de la Literatura

RESUMEN: El diente supernumerario de ubicación nasal es una patología de baja prevalencia en la población con diferentes formas y sintomatología clínica. Es importante establecer un diagnóstico respecto a sus características clínicas y radiológicas para realizar una planificación de tratamiento quirúrgica adecuada, con nula o escasas complicaciones post intervención. Presentación del caso: En el presente estudio se reporta el caso de un niño de 10 años de edad, sin antecedentes mórbidos, que recurre al servicio por presentar un diente supernumerario en la línea media hallado radiográficamente. El CBCT demuestra un mesiodens en el septum nasal, palatal inclinado e invertido, parcialmente erupcionado cubierto por mucosa nasal, con su corona en sentido a la cavidad nasal en relación a las fosas nasales. El diente fue extraído con anestesia general mediante un abordaje transoral a través de una vestibulotomía. El diente supernumerario nasal es una patología poco prevalente. Es importante conocer sus características clínicas y radiográficas ya que determinarán el tipo de abordaje a realizar. El grado de erupción, la distancia a la espina nasal anterior y su sintomatología asociada son fundamentales para determinar si el abordaje quirúrgico es intraoral o extraoral.

ABSTRACT: The supernumerary tooth of nasal location is a pathology of low prevalence in the population with different forms and clinical symptoms. It is important to establish a diagnosis regarding its clinical and radiological characteristics in order to carry out adequate surgical treatment planning, with few or no post-intervention complications. Case presentation: This study reports the case of a 10-year-old boy, with no morbid history, who presented a supernumerary tooth, found radiographically in the midline. CBCT showed a mesiodens in the nasal septum, tilted and inverted palatal, partially erupted covered by nasal mucosa, with its crown facing the nasal cavity in relation to the nostrils. The tooth was extracted under general anesthesia using a transoral approach through a vestibulotomy. The nasal supernumerary tooth is a rare pathology. It is important to know its clinical and radiographic characteristics since they will determine the type of approach to be used. The degree of eruption, the distance to the anterior nasal spine and its associated symptoms are essential to determine whether the surgical approach is intraoral or extraoral.

Mesiodens en dentición temporal y mixta: informe de casos / Mesiodens in primary and mixed dentition: case reports

Objetivo: Presentar una serie de casos clínicos de me- siodens en niños con dentición temporal y mixta, su trata- miento y seguimiento. Casos clínicos: Se muestra el manejo clínico de tres casos de mesiodens en dentición temporal y un caso en den- tición mixta, los cuales fueron diagnosticados en un examen radiográfico de rutina (AU)

Aim: To present a series of clinical cases of mesiodens in children with primary and mixed dentition, their treatment and follow-up. Clinical cases: This paper describes the clinical man- agement of three cases of mesiodens in primary dentition and one case in mixed dentition which were diagnosed in routine radiographic examinations (AU)

Bronquio cardíaco diagnosticado por estudio endoscópico / Cardiac bronchus diagnosed by endoscopic study

Introducción: El bronquio cardíaco es una anomalía congénita poco frecuente, con una incidencia de aproximadamente 0,1 por ciento. Consiste en un bronquio supernumerario que nace de la pared medial del bronquio principal derecho o del bronquio intermediario, opuesto al origen del bronquio para el lóbulo superior derecho y proximal al bronquio del segmento apical del lóbulo inferior derecho. Objetivo: Presentar el caso de un bronquio cardíaco diagnosticado por estudio endoscópico. Presentación del caso: Se presenta el caso de un paciente que ingresa en el servicio de Neumología del Hospital Clínico Quirúrgico Hermanos Ameijeiras por presentar tos, expectoración blanca, disnea a los grandes esfuerzos y una radiografía de tórax con una radiopacidad en el lóbulo superior izquierdo y que como hallazgo incidental durante la realización de la broncoscopia se detecta un bronquio cardíaco o supernumerario. Conclusiones: El bronquio cardíaco es una malformación congénita infrecuente que puede cursar de manera asintomática, cuyo diagnóstico definitivo es por broncoscopia(AU)

Introduction: The cardiac bronchus is a rare congenital anomaly, with an incidence of approximately 0.1 percent. It consists of a supernumerary bronchus that arises from the medial wall of the right main bronchus or the bronchus intermediary, opposite the origin of the bronchus for the right upper lobe and proximal to the bronchus of the apical segment of the right lower lobe. Objective: To report the case of a cardiac bronchus diagnosed by endoscopic study. Case report: We report the case of a patient who was admitted to the Pneumology service at Hermanos Ameijeiras Surgical Clinical Hospital due to cough, white expectoration, dyspnea on exertion and a chest X-ray with radiopacity in the upper lobe, and that as an incidental finding during the bronchoscopy, a cardiac or supernumerary bronchus was detected. Conclusions: Bronchus is an infrequent congenital malformation that can be asymptomatic, whose definitive diagnosis is by bronchoscopy(AU)

Application of cone-beam CT positioning combined with nasal base approach and turbo contra-angle handpiece bone removal in maxillary mid-high impacted supernumerary teeth / 中国医师杂志

Objective:To investigate the application effect of cone-beam computed tomography (CT) positioning combined with nasal bottom approach turbo contra-angle handpiece bone removal method in maxillary mid-high impacted supernumerary teeth.Methods:A total of 78 patients with supernumerary teeth in the middle and high position of the maxilla who were admitted to Anhui Children′s Hospital from January 2020 to January 2022 were selected and divided into the observation group and the control group according to the random number table method. The patients in both groups underwent cone-beam CT localization examination. The control group used the palatal approach or the labial approach to remove the bone with the turbo contra-angle handpiece (depending on whether the supernumerary teeth were located in the palatal or labial side adjacent to the incisor as a whole), and the observation group used the nasal approach to remove the bone with the turbo contra-angle handpiece. The operation time, intraoperative blood loss, postoperative Visual Analogue Scale (VAS), occlusal force, masticatory efficiency and complications were compared between the two groups.Results:The operation time in the observation group [palatal side (21.57±3.31)min; labial side (22.82±3.53)min] was shorter than that in the control group [palatal side (36.44±6.39)min; labial side (39.25±6.78)min] ( P<0.05), and the intraoperative blood loss [palatal (14.37±2.42)ml; labial (15.64±2.67)ml] was less than that in the control group [palatal side (19.56±3.18)ml; labial side (21.89±3.55)ml] ( P<0.05). The postoperative VAS score of the observation group [palatal (2.87±0.42)points; labial (3.14±0.49)points] was lower than that of the control group [palatal side (4.75±0.67)points; labial side (5.06±0.83)points] (all P<0.05). After operation, the occlusal force and masticatory efficiency in the two groups were higher than those before the operation (all P<0.05), and the occlusal force [palatal (148.49±22.35)Ibs; labial (144.92±21.68)Ibs] and masticatory efficiency [palatal side (92.66±16.22)%; labial side (90.83±15.94)%] of the observation group were higher than those of the control group [occlusal force: palatal (121.27±19.81)Ibs, labial (118.74±18.85)Ibs; masticatory efficiency: palatal (83.47±13.76)%, labial (79.79±13.02)%] ( P<0.05). There was no significant difference in the incidence of complications between the two groups ( P>0.05). Conclusions:Cone-beam CT localization combined with turbo contra-angle handpiece osteotomy via nasal floor approach can shorten the operation time, reduce the amount of blood loss and postoperative pain, improve the comfort, and be safe and reliable for patients with maxillary mid-high impacted supernumerary teeth.

Cellular consequences of small supernumerary marker chromosome derived from chromosome 12: mosaicism in daughter and father

Constitutional genomic imbalances are known to cause malformations, disabilities, neurodevelopmental delay, and dysmorphia and can lead to dysfunctions in the cell cycle. In extremely rare genetic conditions such as small supernumerary marker chromosomes (sSMC), it is important to understand the cellular consequences of this extra marker, as well the factors that contribute to their maintenance or elimination through successive cell cycles and phenotypic impact. The study of chromosomal mosaicism provides a natural model to characterize the effect of aneuploidy on genome stability and compare cells with the same genetic background and environment exposure, but differing in the presence of sSMC. Here, we report the functional characterization of different cell lines from two familial patients with mosaic sSMC derived from chromosome 12. We performed studies of proliferation dynamics, stability, and variability of these cells using fluorescent in situ hybridization (FISH), sister chromatid exchanges (SCE), and conventional staining. We also quantified the telomere-related genomic instability of sSMC cells using 3D telomeric profile analysis by quantitative-FISH. sSMC cells exhibited differences in the cell cycle dynamics compared to normal cells. First, the sSMC cells exhibited lower proliferation index and higher frequency of SCE than normal cells, associated with a higher level of chromosomal instability. Second, sSMC cells exhibited more telomeric-related genomic instability. Lastly, the differences of sSMC cells distribution among tissues could explain different phenotypic repercussions observed in patients. These results will help in our understanding of the sSMC stability, maintenance during cell cycle, and the cell cycle variables involved in the different phenotypic manifestations.

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations

Abstract Cleidocranial dysplasia (CCD) is a skeletal disorder affecting cranial sutures, teeth, and clavicles, and is associated with the RUNX2 mutations. Although numerous patients have been described, a direct genotype-phenotype correlation for RUNX2 has been difficult to establish. Further cases must be studied to understand the clinical and genetic spectra of CCD. Objectives To characterize detailed phenotypes and identify variants causing CCD in five unrelated patients and their family members. Methodology Clinical and radiographic examinations were performed. Genetic variants were identified by exome and Sanger sequencing, data were analyzed by bioinformatics tools. Results Three cases were sporadic and two were familial. Exome sequencing successfully detected the heterozygous pathogenic RUNX2 variants in all affected individuals. Three were novel, comprising a frameshift c.739delA (p.(Ser247Valfs*)) in exon 6 (Patient-1), a nonsense c.901C>T (p.(Gln301*)) in exon 7 (Patient-2 and affected mother), and a nonsense c.1081C>T (p.(Gln361*)) in exon 8 (Patient-3). Two previously reported variants were missense: the c.673C>T (p.(Arg225Trp)) (Patient-4) and c.674G>A (p.(Arg225Gln)) (Patient-5) in exon 5 within the Runt homology domain. Patient-1, Patient-2, and Patient-4 with permanent dentition had thirty, nineteen, and twenty unerupted teeth, respectively; whereas Patient-3 and Patient-5, with deciduous dentition, had normally developed teeth. All patients exhibited typical CCD features, but the following uncommon/unreported phenotypes were observed: left fourth ray brachymetatarsia (Patient-1), normal clavicles (Patient-2 and affected mother), phalangeal malformations (Patient-3), and normal primary dentition (Patient-3, Patient-5). Conclusions The study shows that exome sequencing is effective to detect mutation across ethnics. The two p.Arg225 variants confirm that the Runt homology domain is vital for RUNX2 function. Here, we report a new CCD feature, unilateral brachymetatarsia, and three novel truncating variants, expanding the phenotypic and genotypic spectra of RUNX2 , as well as show that the CCD patients can have normal deciduous teeth, but must be monitored for permanent teeth anomalies.

Extraction of supernumerary teeth in a hospital setting: case report in pediatric dentistry / Exodontia de dentes supranumerários em ambiente hospitalar: relato de caso na Odontopediatria

ABSTRACT The diagnosis and treatment of supernumerary teeth pose a challenge for dental clinicians and pediatric dentists. These teeth are asymptomatic and may cause the delayed eruption of the permanent dentition, altered bone growth and ectopic positioning. This paper reports a case of the surgical removal of supernumerary teeth in the anterior region of the maxilla of a child under general anesthesia in a hospital setting. A six-year-old female patient visited a private dental office in the city of Garanhuns, Brazil, accompanied by her mother, who reported a tooth with a "strange shape" in the anterior region as the main complaint and also reported that her daughter's first dental experience was negative. The clinical examination and imaging tests were performed under general anesthesia to confirm the diagnosis. In view of the patient's dental and behavioral history, surgical treatment was performed in a hospital setting and assisted by a multidisciplinary team. Care in the hospital setting was found to be feasible, providing greater comfort for uncooperative patients.

RESUMO Os dentes supranumerários representam um desafio para clínicos e odontopediatras quanto ao diagnóstico e tratamento. São assintomáticos, podendo gerar atraso na dentição permanente, alteração do crescimento ósseo e posicionamento ectópico. Assim, o presente trabalho teve como objetivo apresentar um relato de caso de remoção cirúrgica de dentes supranumerários na região anterior da maxila de um paciente infantil, em ambiente hospitalar sob anestesia geral. O paciente do sexo feminino, 6 anos, compareceu ao consultório apresentando como queixa a presença de um dente "estranho" na região anterior. Foram realizados o exame clínico e exames de imagem com a confirmação do diagnóstico de dentes supranumerários na região do incisivo central superior direito (11) e do incisivo central superior esquerdo (21). Tendo em vista o histórico odontológico e comportamental da paciente, optou-se em realizar o tratamento cirúrgico em ambiente hospitalar, auxiliado por equipe multidisciplinar. Dessa forma, ao final dos procedimentos foi verificado que o atendimento em ambiente hospitalar é viável para maior conforto do paciente não colaborador.

Tratamento cirúrgico de mesiodentes sob sedação consciente com óxido nitroso: relato de caso clínico / Surgical treatment of mesiodens under conscious sedation with nitrous oxide: clinical case report

Dentes supranumerários são caracterizados como um excesso no número de dentes da série normal. Os mesiodentes, definidos pela sua localização mediana aos incisivos centrais superiores, referem-se ao tipo de dente supranumerário mais comumente encontrado na cavidade oral, normalmente intraósseo e assintomático. A presença desses dentes pode ocasionar alterações na dentição permanente, mas a abordagem cirúrgica na fase da dentição mista mostra resultados satisfatórios no alinhamento dental espontâneo. Em pacientes pediátricos, a sedação consciente com óxido nitroso tem demonstrado ser uma alternativa segura e eficaz no controle do medo e da ansiedade. Objetivo: relatar um procedimento cirúrgico de remoção de dois mesiodentes em paciente pediátrico sob anestesia local associada à sedação com óxido nitroso. Relato de caso: paciente do sexo feminino, 11 anos de idade, necessitava de remoção cirúrgica de dois dentes supranumerários localizados em região anterior de maxila. Com a avaliação da tomografia computadorizada, pôde-se observar a posição em que ambos se encontravam. Realizou-se também a exodontia do elemento dentário 14, como solicitado pela ortodontista, para posterior continuidade do tratamento ortodôntico. Devido à complexidade cirúrgica e ao tempo operatório, considerando a idade da paciente e o possível aumento nos níveis de ansiedade, optou-se pela realização de sedação consciente com óxido nitroso. Conclusão: clinicamente, dentes supranumerários podem causar danos locais. O tratamento cirúrgico associado à sedação consciente mostrou-se bastante seguro e efetivo no controle comportamental, além de poder ser implementado na rotina ambulatorial.(AU)

Supernumerary teeth are defined as those in addition to the normal series. The mesiodens, is the most common supernumerary tooth and it is present in the midline between the two central incisors. It is usually intraosseous and asymptomatic. The presence of these teeth may cause changes in permanent dentition and the surgical approach in the mixed dentition phase shows satisfactory results in spontaneous dental alignment. In pediatric patients, conscious sedation with nitrous oxide has been shown to be a safe and effective alternative in controlling fear and anxiety. Objective. To report a surgical procedure for the removal of two mesiodens in a pediatric patient under local anesthesia associated with nitrous oxide sedation. Case report. 11-year-old female patient required surgical removal of two upper mesiodens. The computed tomography images assisted to indicate their exact position. The extraction of the upper right premolar (tooth #14) was also performed as requested by the orthodontist. Considering the patient's age and the possible increase in anxiety levels, along with surgical complexity and operative time, the conscious sedation with nitrous oxide was selected. Conclusion. Clinically, supernumerary teeth cause local damage and surgical treatment associated with conscious sedation has proved to be quite safe and effective in the behavioral control besides being able to be implemented in the outpatient routine.(AU)

Polisindactilia preaxil. Presentación de caso / Preaxile polysyndactyly. Case presentation / Polissindactilia do preáxil. Apresentação do caso

RESUMEN La polisindactilia es un defecto congénito que tiene lugar en las manos o en los pies, o en ambos al mismo tiempo y que consiste en la existencia de múltiples dedos supernumerarios además de la fusión de tejido blando y/o óseo entre dedos adyacentes, generando la ausencia total o parcial del espacio entre dos dedos. Se presenta el caso de una paciente femenina de 35 años de edad. No presenta ningún antecedente patológico personal de interés, ni alergias medicamentosas conocidas. Presenta una sindactilia compleja en el dedo pulgar de la mano derecha, con polidactilia preaxil, acompañado de disminución de la movilidad en las articulaciones de este dedo. Esta paciente voluntariamente y con consentimiento informado forma parte del proyecto de investigación "Defectos congénitos del esqueleto apendicular de la institución." Este defecto afecta el 1.2% de los recién nacidos y el 10 % de esta aparición ocurre en las extremidades superiores, siendo la duplicación del pulgar la polidactilia más común de la mano. La polisindactilia es una entidad con muy poca frecuencia, es más común en la población blanca y asiática, en esta entidad es importante el tratamiento temprano para evitar deformidades en el dedo afectado, Idealmente se debe realizar la cirugía entre los 10 y 12 meses de edad.

ABSTRACT Polysyndactyly is a congenital defect that occurs in the hands or feet, or both at the same time and that consists of the existence of multiple supernumerary fingers in addition to the fusion of soft tissue and / or bone between adjacent fingers, generating the total or partial absence of the space between two fingers. The case of a 35-year-old female patient is presented. He does not present any personal pathological history of interest, or known drug allergies. It presents a complex syndactyly in the thumb of the right hand, with preaxial polydactyly, accompanied by decreased mobility in the joints of this finger. This patient voluntarily and with informed consent is part of the research project "Congenital defects of the appendicular skeleton of the institution." This defect affects 1.2% of newborns and 10% of this appearance occurs in the upper extremities, being the duplication of the thumb the most common polydactyly of the hand. Polysyndactyly is an entity with very little frequency, it is more common in the white and Asian population, in this entity early treatment is important to avoid deformities in the affected finger, Ideally, surgery should be performed between 10 and 12 months of age.

RESUMO A polissindactilia é um defeito congênito que ocorre nas mãos ou nos pés, ou ambos ao mesmo tempo e que consiste na existência de múltiplos dedos supranumerários além da fusão de tecidos moles e / ou osso entre os dedos adjacentes, gerando o total ou parcial ausência de espaço entre dois dedos. É apresentado o caso de uma paciente de 35 anos de idade. Ele não apresenta nenhuma história patológica pessoal de interesse ou alergia a medicamentos conhecida. Apresenta sindactilia complexa no polegar da mão direita, com polidactilia pré-axial, acompanhada de diminuição da mobilidade nas articulações deste dedo. Este paciente voluntariamente e com consentimento informado faz parte do projeto de pesquisa "Defeitos congênitos do esqueleto apendicular da instituição". Esse defeito atinge 1,2% dos recém-nascidos e 10% desse aparecimento ocorre nas extremidades superiores, sendo a duplicação do polegar a polidactilia da mão mais comum. A polissindactilia é uma entidade com muito pouca frequência, é mais comum na população branca e asiática, nesta entidade o tratamento precoce é importante para evitar deformidades no dedo afetado. Idealmente, a cirurgia deve ser realizada entre 10 e 12 meses de idade.

Propuesta de clasificación de huesos suturales / Classification proposal of sutural bones

RESUMEN: Los huesos suturales tienen importancia anatómica y médico-legal. Se observan en las suturas de la cabeza ósea y tradicionalmente son descritos como planos, supernumerarios, irregulares, inconstantes, independientes y de variable morfología y frecuencia. Actualmente, no existe una clasificación única de estos huesos que incorpore todas las categorías descritas en la literatura. El objetivo de este trabajo fue proponer una clasificación actualizada de estos elementos, en función de una revisión bibliográfica exhaustiva y el análisis de cráneos de individuos chilenos. La muestra utilizada correspondió a 113 huesos suturales presentes en 12 cráneos secos, de individuos adultos chilenos. En la clasificación se consideró su ubicación en la cabeza (cráneo o cara), su origen embrionario, su relación con una fontanela, su forma, su posición en la cara y su relación con las tablas óseas. Los datos obtenidos se registraron en formulario especialmente diseñado y se tomaron fotografías digitales. Como resultado general, pudimos desarrollar una propuesta de clasificación de huesos suturales completa y satisfactoria y con ella se analizó los huesos de la muestra, pudiendo evidenciar la presencia de todas las categorías del instrumento. También pudimos constatar que en la totalidad de los cráneos utilizados se observaron huesos suturales, que los cráneos masculinos presentan un mayor número de estos huesos, pero que en los cráneos femeninos fue posible reconocer todas los tipos de huesos suturales, entre otros resultados. También se evidenció un tipo de hueso sutural no descrito anteriormente, el hueso sutural craneal puntiforme. Como conclusión de este trabajo, es importante destacar que los huesos suturales presentan características comunes a otras estructuras utilizadas en identificación forense, es decir, son perennes, únicos, de fácil observación, de fácil comparación y gran variabilidad, por estas razones la presente propuesta de clasificación permite ser planteada como una metodología auxiliar en la identificación humana.

SUMMARY: The sutural bones have anatomical and medico-legal importance. They are observed in the sutures of the bony head and are traditionally described as flat, supernumerary, irregular, inconstant, independent and of variable morphology and frequency. Currently, there is no single classification of these bones that incorporates all the categories described in the literature. The objective of this work was to propose an updated classification of these elements, based on an exhaustive bibliographic review and the analysis of the skulls of Chilean individuals. The sample used corresponds to 113 sutural bones present in 12 dry skulls of Chilean adults. The classification considers its location on the head (skull or face), its embryonic origin, its relationship to a fontanelle, its shape, its position on the face, and its relationship to bone tables. The data obtained was recorded in a specially designed format and digital photographs were taken. As a general result, we were able to develop a complete and satisfactory classification of sutural bones proposal and with it, the bones of the sample were analyzed, showing the presence of all categories of the instrument. We were also able to verify that sutural bones were observed in all the skulls used, that male skulls present a greater number of these bones, but that in the female skulls it was possible to recognize all types of sutural bones, among other results. A type of sutural bone not previously described, the shaped point cranial sutural bone, was also evidenced. As a conclusion to this work, it is important to highlight that sutural bones present characteristics common to other structures used in forensic identification, that is, they are perennial, unique, easily observed, easily compared and great variability, for these reasons the present classification proposal allows it to be proposed as an auxiliary methodology in human identification.

Tratamento de dentes inclusos em proximidade a cavidade nasal e seio maxilar: relato de caso / Treatment of teeth included with proximity to the nasal cavity and maxillary sinus: case report

Durante a formação dentária, distúrbios de desenvolvimento podem acontecer, causando anomalias de número, forma, tamanho, estrutura e posição, além de apresentarem anormalidade no padrão sequencial de irrupção. Uma boa anamnese, associada a palpação e exames de imagens são indispensáveis para um diagnóstico precoce e favorável destas alterações. Os exames de imagem determinarão a relação espacial destes dentes com as estruturas nobres adjacentes. O objetivo deste trabalho é relatar a presença de supranumerário unilateral e impactação bilateral de caninos permanentes, ambas anomalias com proximidade da cavidade nasal e seio maxilar, ressaltando a importância do diagnóstico preciso através de exames clínico e de imagens, que direcionam o planejamento terapêutico específico para cada caso, bem como a associação multidisciplinar para obtenção de um resultado satisfatório do quadro e melhora da qualidade de vida do paciente(AU)

During dental formation, developmental disorders can occur, causing anomalies of number, shape, size and position, in addition to presenting abnormality in the sequential pattern of irruption. Anamnesis associated with palpation are indispensable for an early diagnosis of these alterations. Imaging exams will determine the spatial relationship between these teeth and the adjacent noble structures. The aim of this study was to report the presence of unilateral supernumerary and bilaterally impacted canines, both anomalies with proximity of nasal cavity and maxillary sinus, emphasizing the importance of accurate diagnosis through clinical and imaging exams, that direct the specific therapeutic planning for each case, as well as the multidisciplinary association to obtain satisfactory results and improve the life quality of patients(AU)