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...

Diagnóstico y tratamiento de dientes retenidos: comunicación de 2 casos con disostosis cleido-craneo-facial / Diagnosis and treatment of impacted teeth: report of 2 cases with cleidocranial dysplasia

La disostosis cleidocraneal es una enfermedad esqueletal rara que se caracteriza por retardo en la osificación cranel, hipoplaisa o aplasia clavicular y anomalías dentarias. En esta publicación se mostrarán dos casos en que se involucra la genética y las enfermedades del sistema óseo y dentario, corresopndientes a dos miembros de la misma familia. Se detallan la etiología y patogenia, así como los hallazgos clínicos y radiográficos.

Disostosis cleidocraneal: estudio radiográfico de un caso clínico / Cleidocranial dysostosis: radiographic study of a clinical case

La disostosis cleidocraneal (DCC) es una alteración general infrecuente. Afecta huesos largos, especialmente clavícula y en el área maxilofacial observamos anomalías de número, de erupción, prognatismo y ensanchamiento del arco cigomático. Surge de la mutación del gen CBFA 1/Run X2 ubicado en el cromosoma 6p21 considerado el gen maestro en la formación de huesos y dientes. El propósito de este trabajo fue presentar un caso clínico estudiado radiográficamente y apoyado en la revisión bibliográfica de dicha patología. Esta revisión es coincidente en sus aspectos tanto dentarios como esqueletales de nuestro caso.

Cleidocranial dysplasia: a case report

The cleidocranial dysplasia is a rare disease which can occur either spontaneously or by a dominant autosomal inheritance, with no predilection of genre or ethnic group. The odontologist is, most of the times, the first professional who patients look for to solve the problem, since there is a delay in the eruption and /or an absence of permanent teeth. In the case related in this work, this was the reason why the patient looked for treatment. Many others odontological problems are also present in this syndrome, such as, supernumerary teeth, retained teeth, with shape deviation and absence of deciduous teeth resorption. The premature diagnosis allows a proper orientation for the treatment, offering a better life quality for the patient.

La displasia cleidocranial es una enfermedad rara que puede ocurrir, ya sea espontáneamente, o por una herencia autosómica dominante, sin predilección de género o grupo étnico. El odontólogo, en la mayoría de las veces, es el primer profesional que buscan los pacientes para resolver el problema, ya que hay un retraso en la erupción y/o ausencia de dientes permanentes. En el caso presentado en este trabajo, ésta fue la razón por la que el paciente esperó para recibir tratamiento. Muchos otros problemas odontológicos están también presentes en este síndrome, como por ejemplo, dientes supernumerarios, dientes retenidos, con desviación de la forma y la resorción y ausencia de dientes temporales. El diagnóstico precoz permite una adecuada orientación para el tratamiento, ofreciendo una mejor calidad de vida para el paciente.

Cementum analysis in cleidocranial dysostosis.

OBJECTIVE: Cleidocranial dysostosis (CCD) is a skeletal disorder associated with dental anomalies such as failure or delayed eruption of permanent teeth and multiple impacted supernumerary or permanent teeth. Absence of cellular cementum at the root apex is presumed to be one of the factors for failure or delayed eruption. The aim of this study was to analyze the root cementum of supernumerary(S) and permanent teeth (P) of a CCD patient and to compare the findings with those of normal individuals with special emphasis on delayed eruption. MATERIALS AND METHODS: Ground sections of 12 extracted teeth (9S + 3P) of a CCD patient and 12 teeth of normal individuals (5S + 7P) were taken for the study. The sections were longitudinal and 50 microm thick. Root characteristics were recorded with the aid of a light microscope. RESULTS: The absence of apical cellular cementum, increased root resorption and increased percentage of the gap type of cemento-enamel (C-E) junctions were significant findings noted both in the supernumerary and permanent teeth of the CCD patient. CONCLUSION: The presumption of cellular cementum is essential for tooth eruption is not supported by the findings of the present study. Delayed exception could be attributed to various other factors like mechanical obstruction, reduced serum alkaline phosphatase levels etc. Also, the significance of the increased percentage of the gap type of C-E junctions and its role in tooth eruption has to be further evaluated.

Cleidocranial dysplasia.

Cleidocranial dysplasia (CCD) is a disorder that affects mostly those bones which derived from endochrondal and intramembranous ossification, such as the cranium and the clavicles. CCD is present at a frequency of one in one million individuals. Over 500 cases have been reported. A 13 years old boy reported in the Paediatric Endocrinology outpatient department, Bangladesh Institute of Research and Rehabilitation on Diabetes, Endocrine and Metabolic Disorders (BIRDEM) on 6th April 2006 with complaints of not growing according to his age, a wide gap over the head since birth and delayed shedding of primary teeth and also eruption of secondary teeth. The boy had elongated facies with midfacial hypoplasia, depressed nasal bridge with hypertelorism. His anterior fontanelle was open about 3/1.5 cm. He had short clavicle and his shoulders could be easily apposed. Radiological findings showed anterior fontanellle and sutures were open and widened, all decidual teeth were intact and all secondary teeth were impacted beneath the primary teeth and hypoplastic clavicle. He was diagnosed as a case of Cleidocranial Dysplasia on the basis of history, clinical examination and investigation.

Cleido-cranial Dysplasia

A 19-year old patient reported with mid face deficiency, un-erupted teeth and functional bite problems, his history revealed that he has another elder brother with the same birth condition. His chief concern was functional class III bite problems as well as poor aesthetics. He was clinically examined thoroughly to diagnose and label his condition. On examination, it was seen that he was able to join his shoulders [hypoplastic clavicles], mid face deficiency and relative mandibular prognathism, while hypertelorism was also noticed. On intra-oral examination, a high maxillary arch with all permanent teeth were found to be fully erupted except 3rd molars, right and left canines, incisors and left 1st premolar. The right central incisor was partially erupted. Left deciduous canine was retained. In the mandibular arch, relatively less permanent teeth were erupted. The teeth found missing were 3rd molars, all premolars except left 2nd premolar, right lateral incisor and both canines. The right 2nd deciduous molar, right and left deciduous canines and right deciduous lateral incisors were found retained. The crowns of all permanent 1st molars were grossly carious but without involvement of the pulp. The oral hygiene was not satisfactory with generalized plaque and calculus. After initial periodontal, conservative and extraction treatment, patient was ready for the dentures. On radiographic assessment [OPG], un-erupted teeth were present along with five supernumerary teeth in the lower arch and one in the upper arch

Displasia cleidocraniana - relato de caso de revisäo da literatura / Cleidocranial dysplasia - a case and review of the literature

Resumo: A displasia cleidocraniana é doença rara de herança autossômica dominante, caracterizada por atraso no fechamento das fontenelas, hipoplasia ou aplasia das clavículas, permitindo uma facilidade anormal na aproximaçäo dos ombros, anomalias dentárias e malformaçöes vertebrais. Os autores estudaram um adolescente, de 13 anos de idade, com caracteristicas clínicas e radiológicas típicas dessa condiçâo.