Manifestações bucais em uma paciente com disostose cleidocraniana: relato de caso / Oral manifestations in a patient with cleidocranial dysostosis: case report

A Disostose Cleidocraniana (DC), também conhecida como Displasia Cleidocraniana (DCC), é uma doença autossômica de caráter dominante, relatada pela primeira vez no século XVIII, sendo descrita em 1897 por Pierre Marie e Paul Sainton, relacionando-a a fatores genéticos. Suas manifestações clínicas apresentam-se através do desenvolvimento tardio de estruturas e defeitos ósseos, anormalidades estomatognáticas e craniofaciais. O diagnóstico baseia-se nas características clínicas e imaginológicas e o tratamento odontológico geralmente é cirúrgico, envolvendo a exodontia de unidades supranumerárias e decíduas, em associação com a abordagem ortodôntica. Este trabalho possui como objetivo, relatar o caso clínico sobre as principais manifestações bucais evidenciadas em uma paciente jovem diagnosticado com Displasia Cleidocraniana, bem como demonstrar a importância do diagnóstico preciso para auxílio no sucesso do tratamento e qualidade de vida do paciente(AU)

Cleidocranial Dysostosis (CD), also known as Cleidocranial Dysplasia (DCC), is an autosomal dominant disease, first reported in the 18th century, being described in 1897 by Pierre Marie and Paul Sainton, relating it to genetic factors. Its clinical manifestations appear through the late development of bone structures and defects, stomatognathic and craniofacial abnormalities. The diagnosis is based on clinical and imaging characteristics and dental treatment is usually surgical, involving the extraction of supernumerary and deciduous units, in association with the orthodontic approach. This work aims to report the clinical case about the main oral manifestations evidenced in a young patient diagnosed with Cleidocranial Dysplasia, as well as to demonstrate the importance of accurate diagnosis to aid in the success of the treatment and quality of life of the patient(AU)

Disostosis cleidocraneal a tres años de tratamiento ortopédico / Cleidocraneal dysostosis at three years of orthopedic treatment

Introducción: La disostosis cleidocraneal es un trastorno genético raro con patrón hereditario. Sus rasgos patognomónicos son la aplasia clavicular, fontanelas y suturas abiertas, múltiples anomalías dentales. Su origen se relaciona con alteraciones en el gen RUNX2, importante para la síntesis de CBFA1, que a su vez funciona como un conformador óseo y un diferenciador de osteoblastos. Caso clínico: Paciente de 11 años con características clínicas de CCD, se corroboran los antecedentes genéticos hereditarios y alteraciones dentales relacionados con disostosis cleidocraneal. Resultado: A tres años de tratamiento se observa mejor definición facial, la erupción de piezas permanentes retenidas y mejor función masticatoria. Conclusión: Mejorar la calidad de vida del paciente con tratamientos interceptivos y el conocimiento de las alteraciones causadas por el síndrome, así como el trabajo interdisciplinario (AU)

Introduction: Cleidocranial dysostosis is a rare genetic disorder with a hereditary pattern. Its pathognomonic features are clavicular aplasia, fontanelles and open sutures, multiple dental anomalies. Its origin is related to alterations in the RUNX2 gene, important for the synthesis of CBFA1, which in turn functions as a bone conformer and an osteoblast differentiator. Clinical case: Patient with eleven years old with clinical characteristics of CCD, hereditary genetic background, and dental alterations related to cleidocranial dysostosis are corroborated. Result: After three years of treatment, the facial definition is better, the eruption of permanent pieces retained and better chewing function. Conclusion: Improve the quality of life of the patient with interceptive treatments and the knowledge of the alterations caused by the syndrome, as well as the interdisciplinary work (AU)

Síndrome de Scheuthauer Marie Sainton / Scheuthauer-Marie-Sainton syndrome

RESUMEN El síndrome de Scheuthauer Marie Sainton es una enfermedad poco frecuente, que sigue un patrón de herencia autosómico dominante con expresividad variable. Se presenta paciente masculino de 74 años de edad, nacido por parto distócico (cesárea) producto a una desproporción cefalopélvica materna. Acudió a la consulta de Medicina General Integral, del Policlínico Docente "Efraín Mayor Amaro", municipio Cotorro, La Habana, con tos y secreción nasal. Se interpretó como un catarro común para lo cual se le indicó abundantes líquidos, analgésicos, antihistamínicos y vitamina C. En el examen físico se constató que el paciente padecía del síndrome de Scheuthauer Marie Sainton, pues tenía ausencia de ambas clavículas, deformidades óseas y anomalías dentales; además, se detectó tórax acampanado, el cual es evidente en el período de recién nacido. Para el tratamiento de esta enfermedad, el paciente fue remitido a la consulta de estomatología. Desde el punto de vista óseo, no se realizó ninguna cirugía correctora a voluntad del paciente(AU)

ABSTRACT Scheuthauer Marie Sainton syndrome is a rare disease that follows an autosomal dominant pattern of inheritance with variable expressivity. We report a case of a 74-year-old male patient, who was born by dystocic delivery (cesarean section) due to maternal cephalopelvic disproportion. He went to the Comprehensive General Medicine consultation at Efraín Mayor Amaro Teaching Community Clinic, Cotorro municipality, Havana, with a cough and runny nose. It was interpreted as a common cold and he was prescribed abundant fluids, analgesics, antihistamines and vitamin C. On physical examination it was found that the patient suffered from Scheuthauer Marie Sainton syndrome, as he had absence of both clavicles, bone deformities and dental abnormalities. In addition, he was noticed to have flared chest, which is evident in the newborn period. The patient was referred to the stomatology consultation for the treatment of this disease. No corrective bone surgery was performed at the patient's discretion(AU)

RÉSUMÉ Le syndrome de Scheuthauer-Marie-Sainton est une maladie peu fréquente, qui suit un modèle de transmission autosomique dominante à expression variable. Un patient âgé de 74 ans, né par accouchement dystocique (césarienne) dû à une disproportion céphalo-pelvienne maternelle, est présenté. Du fait de la toux et des sécrétions nasales, il est allé à la consultation de médecine générale intégrale, de la polyclinique universitaire Efrain Mayor Amaro, dans la municipalité de Cotorro, à La Havane. Un rhume a été considéré, c'est pourquoi on lui a indiqué de prendre des boissons en abondance, et prescrit des analgésiques, des antihistaminiques et de la vitamine C. Dans l'examen physique, on a pu constater que le patient était atteint de syndrome de Scheuthauer-Marie-Sainton, caractérisé par l'absence complète des clavicules, des difformités osseuses et des anomalies de la denture ; on a aussi trouvé un thorax évasé, très évident chez le nouveau-né. Pour le traitement de cette maladie, le patient a été dirigé à la consultation de stomatologie. Du point de vue osseux, aucune chirurgie de correction n'a été effectuée en respectant la volonté du patient(AU)

Abordagem cirúrgica em paciente portador da disostose cleidocraniana / Surgical approach in patient with dysostosis cleidocranial

A disostose cleidocraniana (DCC) foi descrita e conceituada, pela primeira vez, em 1897, por Marie e Sainton. O padrão de herança é autossômico dominante, porém, em alguns casos, interferências externas no período fetal poderiam causar mutações genéticas, impedindo a transformação de células-tronco mesenquimais em osteoblastos. Essa patologia é caracterizada por malformações cranianas, anormalidades nas clavículas, dentes supranumerários e retenções dentárias. Estudos radiológicos e genéticos são extremamente importantes para o seu diagnóstico preciso. O presente trabalho objetiva apresentar um tratamento cirúrgico dentário em paciente portador dessa patologia.

The Cleidocranial dysostosis (CCD) was described and conceptualized for the first time in 1897 by Marie and Sainton. The pattern of in heritance is autosomal dominant but, in some cases, externalinterference in the fetal period could cause genetic mutation preventing the transformation of mesenchymal stem cells into osteoblasts. This pathologyis characterized by cranial malformations, abnormalities of the clavicles, supernumerary teeth and dental retentions. Radiologicalstudies are extremelyimportanttoa precise diagnosis. Thisstudy aims to present a dental surgicaltreatment in patientswiththispathology.

Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation / 대한악안면성형재건외과학회지

Cleidocranial dysplasia is an autosomal dominant heritable skeletal disorder. The characteristic features of cleidocranial dysplasia (CCD) may include hypoplasia of the clavicle, delayed closure of frontanelles, late tooth eruption, and other skeletal disorders. This case report describes clinical and radiographic manifestations at the age of 11 and 29 of a CCD patient, investigates the mutation of core-binding factor A1 (CBFA1) based on gene analysis, and illustrates successful oral reconstruction with fixed prosthesis and dental implant after the extraction of multiple teeth.

Non-syndromic Multiple Supernumerary Teeth:A Case Report and Review of Literature.

Supernumerary teeth are regarded as an anomalous increase in the number of naturally occurring teeth. Multiple supernumerary teeth can be seen in association with syndromes such as Cleidocranial dysplasia, Gardner’s syndrome, Fabry-Anderson syndrome and Ehlers-Danlos syndrome. Non-syndromic occurrence however is a rarity and very few reported cases exist. Th e exact etiopathogenesis of the condition remains unknown, but several theories have been proposed, the most popular one being “hyperactivity of dental lamina.” When present, supernumeraries often pose a problem to the normal development and eruption of the neighboring dentition. Most of them are accidental fi ndings on radiographs, which also happens to be the most reliable tool in early diagnosis of this abnormality. We describe a case of 28-year-old male having 10 supernumerary teeth with non-syndromic association, which were diagnosed during routine radiographic evaluation.

Caracterización de la disostosis cleidocraneal en una familia / Characterization of Cleidocranial Dysostosis in a Family

Introducción: la displasia o disostosis cleidocraneal es una displasia esquelética rara, afecta huesos largos, especialmente clavículas y en el área máxilo-facial, se pueden apreciar anomalías de número, de erupción, prognatismo y ensanchamiento del arco cigomático. La mutación del gen CBFA1/RUNX2 ubicado en 6p21 considerado el gen maestro en la formación de los huesos y dientes está en relación con esta afección, al igual que otras mutaciones en otros genes. Objetivo: describir el comportamiento de la disostosis cleidocraneal en una familia. Métodos: se describió un estudio clínico, radiográfico y el árbol genealógico de la única familia afectada de disostosis cleidocraneal, descendientes de un inmigrante español que se asentó en el municipio de Urbano Noris y que ejerció un efecto fundador. Resultados: la deformidad con acortamiento de clavículas y la braquicefalia se presentó en el 100% de los afectados. En la segunda generación no se observó la deformidad producto a que este gen se expresó con penetrancia reducida. Conclusiones: se evidenció un patrón de herencia autosómico dominante, con afectación de 19 miembros, en cinco generaciones, de los cuales solo se estudiaron nueve de ellos; en esta familia se presentó la afección con penetrancia reducida. Se comprobó desproporción entre las dimensiones del cráneo, de la cara y la deformidad torácica por el acortamiento de ambas clavículas en el total de los afectados, que resultó el signo clínico más llamativo. La displasia de ambas clavículas y la braquicefalia fueron las alteraciones radiográficas más frecuentes.

Introduction: cleidocranial dysplasia or dysostosis is a rare skeletal dysplasia that affects long bones, especially clavicles and maxillofacial area, number abnormalities, rash, prognathism and widening of the zygomatic arch can be observed. CBFA1/RUNX2 gene mutation located on 6p21 considered the master gene in the formation of bones and teeth is associated to the condition, as well as other mutations in other genes. Objective: to describe the behavior of cleidocranial dysostosis in a family. Methods: a clinical, radiographic study and the pedigree of the only one affected family by cleidocranial dysostosis, descendants of a Spanish immigrant who settled in the town of Urbano Noris and exerted a founder effect were described. Results: deformity with shortening of clavicles and brachycephaly was presented in 100% of patients. In the second generation this deformity was not observed because this gene was expressed with reduced penetrance. Conclusions: an autosomal dominant inheritance pattern, affecting 19 members in five generations was showed and only nine of them were studied, in this family the condition with reduced penetrance was showed. Discrepancy was found between the dimensions of the skull, face and chest deformity by shortening both clavicles in the total of those affected, which was the most striking clinical sign. Dysplasia of both clavicles and brachycephaly were the most common radiographic abnormalities.

Cleidocranial dysostosis: a case report / Disostosis cleidocraneal: reporte de caso

Cleidocranial dysostosis is a congenital condition that results from faulty development of membranous bones, mainly the clavicles and skull. The clavicular abnormality may range from a small defect in one clavicle to complete absence of both, but most frequently an absence of the central clavicular segment, as was seen in our patient. A review of the literature has revealed only one previous report a cleidocranial dysostosis syndrome...

La disostosis cleidocraneal es una condición congénita que resulta de un desarrollo defectuoso de los huesos con osificación membranosa, principalmente las clavículas y el cráneo. La anormalidad clavicular puede ir desde un pequeño defecto en una clavícula hasta la total ausencia de ambas, pero con mayor frecuencia se observa la ausencia del segmento clavicular central, como se observó en nuestro paciente. Una revisión de la literatura reveló sólo un caso previo con un síndrome de disostosis cleidocraneal de características similares...

Disostose cleidocraniana - relato de um caso clínico com abordagem multidisciplinar / Cleidocranial dysostosis - case report of a multidisciplinary approach

A disostose cleidocraniana é uma síndrome genética rara, autossómica dominante. Neste caso particular, os muitos desafios dos tratamentos foram resolvidos por uma equipe odontológica, cujo traccionamento ortodôntico de dentes inclusos associados com a cirurgia ortognática bimaxilar foi o principal foco. O objectivo deste tratamento ortodôntico-cirúrgico foi restaurar a oclusão funcional e melhorar a estética facial, aproveitando a vantagem de todos os dentes impactados que caracterizam esta síndrome.

Cleidocranial dysostosis (CCD) is a rare genetic syndrome, autosomal dominant. In this paper a patient with cleidocranial dysostosis was treated under a multidisciplinary basis. Many treatment challenges were solved by a dental team, in which the orthodontic traction of unerupted teeth associated with bimaxilar surgery had the main focus. The aim of this surgical-orthodontic treatment was to restore the functional occlusion and to improve the facial aesthetics, taking advantage of all the impacted teeth which characterize this syndrome.

Correction of Frontal Bone Defect in Cleidocranial Dysostosis with Porous Polyethylene(Medpor(R)): A Case Report

PURPOSE: Cleidocranial dysostosis is a rare hereditary disorder affecting bones that develop by intramembranous formation. The typical features include excessive growth of transverse diameter of the skull, hypoplastic clavicles, low height and characteristic facial features. METHODS: A 28-year-old female patient visited by frontal area depression. The diagnosis was performed by computed tomographic study and radiographic imaging. The patient had widely opened anterior fontanelle, partial fused metopic suture, multiple wormian bone and supernumenary impacted teeth. Under the coronal incision, we exposed depressed frontal area and corrected with Medpor block carving. RESULTS: Postoperatively frontoparietal skull was aestheticlly improved and satisfied the patient. CONCLUSION: Authors report a case of cleiodocranial dysostosis who underwent correction of abnormal skull shape by Medpor(R) insertion.

Cleidocranial dysostosis occurred in the mother and her son: Case Report / 대한정형외과학회잡지

Cleidocranial dysostosis is a rare congenital developmental disorder in which membranous bones fail to ossify sufficiently, particularily in the calvarium and the clavicles where fibrous tissue replaces the bone. Authors report two cases of cleidocranial dysostosis occurred in a 44-year-old woman and her 19-year-old son.

Cleidocranial Dysostosis One Case Report / 대한정형외과학회잡지

Cleidocranial dysostosis is a rare herditary disorder affecting bones that develop by intramembranous formation. The classical features include exaggerated development of the transverse diameter of the skull, delay in the ossification of the fontanels, aplasia of the clavicles, and hereditary transmission. Authors report a case of cleidocranial dysostosis in 8 years old boy with brief review of the literatures.

Cleidocranial Dysostosis: One Case Report / 대한정형외과학회잡지

The cleidocranial dysostosis is characterized by deficient formation of the clavicle, delayed and imperfect ossification of the cranium and less often involvement of other bones. The cleidocranial dysostosis is relatively rare congenital and familial disorder with autosomal dominant inheritance. We report one case of cleidocranial dysostosis with a brief review of the literatures