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Sample records for cleidocranial dysplasia-related r131g

  1. Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case

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    Qin, Xue-Yan; Jia, Pei-Zeng; Zhao, Hua-Xiang; Li, Wei-Ran; Chen, Feng; Lin, Jiu-Xiang

    2017-01-01

    Background: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short stature, and delayed eruption of permanent and supernumerary teeth. Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2). Here, we report a sporadic Chinese case presenting typical symptoms of CCD. Methods: We made genetic testing on this sporadic Chinese case and identified a novel RUNX2 frameshift mutation: c.1111dupT. In situ immunofluorescence microscopy and osteocalcin promoter luciferase assay were performed to compare the functions of the RUNX2 mutation with those of wild-type RUNX2. Results: RUNX2 mutation was observed in the perinuclear region, cytoplasm, and nuclei. In contrast, wild-type RUNX2 was confined in the nuclei, which indicated that the subcellular compartmentalization of RUNX2 mutation was partially perturbed. The transactivation function on osteocalcin promoter of the RUNX2 mutation was obviously abrogated. Conclusions: We identified a sporadic CCD patient carrying a novel insertion/frameshift mutation of RUNX2. This finding expanded our understanding of CCD-related phenotypes. PMID:28091408

  2. Cleidocranial dysplasia: a case report

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    Kim, Jae Duk; Lee, Chang Yul; You, Choong Hyun [Chosun University College of Medicine, Gwangju (Korea, Republic of)

    2004-03-15

    Cleidocranial dysplasia is a rare and autosomal dominant disorder characterized by aplasia or hypoplasia of the clavicles, an open fontanelle, dental abnormalities, and short stature. A 17-year-old female who presented with short stature and subsequent delay in eruption of permanent teeth is described. she showed the abnormal hypermobility of the shoulder, ocular hypertelorism and concave nasal bridge. Radiographs revealed the underdeveloped maxilla, defect of the cranium in the fontanelle region, and aplasia of the clavicles. Characteristically, panoramic view revealed near parallel-sided borders of the ascending ramus and downward curvature of the zygomatic arch with hypoplasia. The prolonged retention of deciduous teeth with delayed eruption of permanent teeth and multiple embedded supernumerary teeth were striking. Radiographic and clinical investigations revealed Cleidocranial dysplasia.

  3. Cleidocranial dysplasia: a case report

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    Han, Jin Won [Kangnung National University College of Medicine, Kangnung (Korea, Republic of)

    2005-12-15

    Cleidocranial dysplasia is a rare, autosomal dominant congenital disorder. A 12-year-old female visited with chief complaint of unerupted permanent teeth. Also her father showed severe class III malocclusion. The extraoral radiography and computed tomography showed delayed closure of the cranial sutures and underdevelopment of maxilla, maxillary sinuses, and frontal sinus. Both clavicles were underdeveloped and thoracic rib cage was bell-shaped. Both zygomatic process appeared as hypoplastic feature. There were many unerupted permanent and supernumerary teeth in the maxilla and mandible. We examined location and number of the unerupted teeth using 3D CT. Finally we could conclude this case was cleidocranial dysplasia based on the clinico-radiologic findings.

  4. A case of cleidocranial dysostosis

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    Ahn, Hyung Kyu; You, Dong Soo; Park, Tae Won [Department of Dental Roentgenology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of); Lim, C. Y.; Kim, S. W. [Dept. of Oral Pathology, Seoul National University, Seoul (Korea, Republic of)

    1977-11-15

    The authors had observed a case of cleidocranial dysostosis of 42 year old unmarried woman. The observation was founded upon roentgenogram of skull P-A view, orthopantomograph, cephalometric view, chest P-A view , and wrist X-ray view. The patient gave a dwarfish impression with 145 cm body height and concave mandibular prognathic facial feature. The palate was narrowed and extremely high arched. The eruption state of teeth was extremely poor, only four teeth were erupted, composed of upper third molar and lower three deformed teeth. The skull P-A view of reontgenogram reveals overlying metopic suture, and the suture are delayed up to date and many wormian bones are formed. On the cephalometric view, the maxilla is underdeveloped and produce the false mandibular prognathism. Twenty four impacted teeth can be detected by orthopantmograph, twelve in upper jaw and twelve in lower jaw. There are many supernumerary teeth, one in upper jaw and seven in lower jaw. On the chest P-A view, the clavicles are totally aplastic, but a vestige of clavicle is visible in the right side. On the wrist roentgenogram, the epiphyseal ossification of distal phalanx, mesial phalanx, and proximal phalanx is delayed.

  5. Cleidocranial dysplasia: Report of 4 cases and review

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    Virender Gombra

    2008-01-01

    Full Text Available Patients with cleidocranial dysplasia commonly present with significant dental problems such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth and often, the presence of supernumerary teeth. We report 4 cases of 2 families presenting with cleidocranial dysplasia disorder with their clinical and radiological diagnosis and illustrating its pathogenesis and various treatment modalities, review of literatures.

  6. Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management

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    Serhat Köseoğlu

    2012-03-01

    Full Text Available Cleidocranial dysplasia (CCD is an autosomal dominantskeletal dysplasia characterised by abnormal clavicles,patent sutures and fontanelles, supernumerary teeth,short stature, and a variety of other skeletal change. Cleidocranialdysplasia is caused by mutation in the geneon 6p21 encoding transcription factor CBFA1, i.e. runtrelatedtranscription factor 2 (RUNX2. Individuals withCCD should be followed by either a team of specialist orby individual specialist familiar with the problems that canbe associated with this condition. J Clin Exp Invest 2012;3(1: 133-136

  7. Dental team management for a patient with cleidocranial dysostosis.

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    Angle, Anne D; Rebellato, Joe

    2005-07-01

    Cleidocranial dysostosis is a rare autosomal condition that affects ossification. The dental abnormalities associated with it present a remarkable challenge in orthodontic treatment planning. Early diagnosis is extremely important to give the patient the best treatment options. Patients with cleidocranial dysostosis require a team approach with good communication and cooperation from the patient. Timing of the intervention is critical, and many surgeries might be required. The patient in this report was treated with a team effort that involved several dental specialties to achieve an optimal result.

  8. Craniofacial and temporal bone CT findings in cleidocranial dysplasia

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    Gonzalez, Guido E. [Massachusetts General Hospital and Harvard Medical School, Department of Radiology, Boston, MA (United States); Clinica Alemana de Santiago, Departamento de Imagenes, Santiago (Chile); Caruso, Paul A.; Curtin, Hugh D. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Radiology, Boston, MA (United States); Small, Juan E. [Massachusetts General Hospital and Harvard Medical School, Department of Radiology, Boston, MA (United States); Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Radiology, Boston, MA (United States); Jyung, Robert W. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Otology, Boston, MA (United States); Troulis, Maria J. [Massachusetts General Hospital and Harvard Medical School, Department of Oral and Maxillofacial Surgery, Boston, MA (United States)

    2008-08-15

    Cleidocranial dysplasia (CCD) is a multistructural polyostotic genetic disorder that results from mutation of the CBFA1 gene. Hearing loss is a frequent finding in CCD. We describe the CT craniofacial findings in CCD and provide a comprehensive discussion of the CT temporal bone findings in these patients. (orig.)

  9. RUNX2 analysis of Danish cleidocranial dysplasia families

    DEFF Research Database (Denmark)

    Hansen, L; Riis, A K; Silahtaroglu, A;

    2011-01-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant inherited disease caused by mutations in the Runt gene RUNX2. Screening of 19 Danish CCD families revealed 16 pathogenic mutations (84%) representing 8 missense mutations, 2 nonsense mutations, 4 frame-shift mutations and 2 large deletions...

  10. Cleidocranial dysostosis: a report on two familial cases

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    Carlos Guilherme Gaelzer Porciuncula

    2013-12-01

    Full Text Available Cleidocranial dysostosis is a rare genetic syndrome with an autosomal dominant inheritance pattern. The most common manifestations include clavicular aplasia or hypoplasia, open fontanelles and abnormal dentition. The present report describes two familial cases whose late diagnosis was made by means of clinical and radiographic findings. The treatment was radical, with complete surgical teeth extraction and making of total dental prosthesis.

  11. Cleidocranial dysostosis: case report; Disostose cleidocraniana: relato de caso

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    Marussi, Victor Hugo Rocha; Mariz, Fernando Eduardo Nunes [Santa Casa da Misericordia, Juiz de Fora, MG (Brazil). Ultrimagem]. E-mail: vhmarussi@hotmail.com; Moraes, Aline Curcio de; Segregio, Camila Aparecida de Souza; Mendonca, Isac Miranda de [Universidade Federal de Juiz de Fora (UFJF), MG (Brazil). Medicina

    2008-07-01

    Cleidocranial dysostosis syndrome is an autosomal dominant condition with generalised dysplasia of bone and teeth. It is characterized by short stature, typical facial features and skeletal anomalies affecting skull and clavicle. The authors refer to the case of a male patient presenting this syndrome, emphasizing clinical and radiologic findings. (author)

  12. Prenatal 3D Ultrasound Diagnostics in Cleidocranial Dysplasia

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    Hermann, NV; Hove, HD; Jørgensen, C

    2009-01-01

    A 34-year-old Caucasian woman with cleidocranial dysplasia (CCD) and a known family history of CCD was referred for an ultrasound examination in the first trimester of her second pregnancy. Molecular genetic analysis of the RUNX2 gene was non-informative. A routine 2D ultrasound examination carried...... in the calvarial midline and missing nasal bones, are easily recognizable using 3D ultrasound as early as in week 15. Copyright (C) 2009 S. Karger AG, Basel....

  13. Cleidocranial dysplasia: clinico-radiological illustration of a rare case.

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    Mohan, Ravi Prakash S; Suma, Gundareddy N; Vashishth, Shirin; Goel, Sumit

    2010-03-01

    Cleidocranial dysplasia is an autosomal dominant condition caused by mutation of RUNX2, characterized by generalized dysplasia of the bones and teeth. Affected individuals have short stature, atypical facial features, and skeletal anomalies affecting mainly the skull and clavicle. The dental manifestations are mainly delayed exfoliation of the primary teeth and delayed eruption of the permanent teeth, with multiple impacted supernumeraries, and absence of cellular cementum. The frequency of this disorder is 1 per million individuals. Here we report a rare case of CCD in a 9-year-old male patient having most of the characteristic features of this syndrome. Interestingly, disorganized dentinal tubules were found in the roots of an extracted deciduous first molar, which seems to be a unique feature not reported previously.

  14. Platform switching in the treatment of Cleidocranial Dysplasia: a case report

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    J.L. Calvo-Guirado

    2013-06-01

    Full Text Available Background Cleidocranial dysplasia is a very rare occurrence, its incidence being 1: 1,000,000.Case report This report describes the treatment of a 31-year-old woman with cleidocranial dysplasia treated with expanded platform implants. All mandibular and maxillary teeth were extracted and porcine collagenized bone was used to cover the bone defects in both arches. Six months later, four expanded platform implants were used to restore the mandibular arch, but one of them failed before the prosthesis was placed. In the maxillary arch a complete denture was relined and placed in the maxilla. The definitive mandibular restoration was delivered 3 months after surgery.Conclusion Since early diagnosis of cleidocranial dysplasia is essential for choosing the appropriate treatment approach, clinicians should be aware of its characteristic features.

  15. Hypodontia and Delayed Dentition as the Primary Manifestation of Cleidocranial Dysplasia Presenting with a Diagnostic Dilemma

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    Radhika Chopra

    2012-01-01

    Full Text Available Cleidocranial dysplasia is a rare autosomal disorder which manifests as partial or complete absence of clavicles, multiple supernumerary teeth, and delayed closure of fontanelle. Classical cases of cleidocranial dysplasia are easily diagnosed very early in the life. However, cases with partial manifestation of the syndrome and noncontributory family history are difficult to diagnose. Here, we report a case of 8.5-year-old girl child who presented with delayed tooth development (without any supernumerary teeth, anterior open fontanelle, and normal clavicles, thus resulting in a diagnostic dilemma.

  16. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

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    Lu, Hui; Zeng, Bing Hui; Yu, Dong Sheng; Jing, Xiang Yi; Hu, Bin; Zhao, Wei; Wang, Yi Ming [Sun Yat-Sen University, Guangzhou (China)

    2015-09-15

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes.

  17. RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia

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    Wei-De Lin

    2011-01-01

    Full Text Available Cleidocranial dysplasia (CCD is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal abnormalities. It is known that mutations in the human RUNX2 gene mapped at 6p21 are responsible for CCD. We analyzed the mutation patterns of the RUNX2 gene by direct sequencing in six Taiwanese index cases with typical CCD. One of the patients was a familial case and the others were sporadic cases. Sequencing identified four mutations. Three were caused by single nucleotide substitutions, which created a nonsense (p.R391X, two were missense mutations (p.R190W, p.R225Q, and the forth was a novel mutation (c.1119delC, a one-base deletion. Real time quantitative PCR adapted to determine copy numbers of the promoter, all exons and the 3'UTR region of the RUNX2 gene detected the deletion of a single allele in a sporadic case. The results extend the spectrum of RUNX2 mutations in CCD patients and indicate that complete deletions of the RUNX2 gene should be considered in those CCD patients lacking a point mutation detected by direct sequencing.

  18. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

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    Lu, Hui; Zeng, Binghui; Yu, Dongsheng; Jing, Xiangyi; Hu, Bin; Wang, Yiming

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes. PMID:26389062

  19. Cone-beam computed tomography: An inevitable investigation in cleidocranial dysplasia

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    Nandita S Gupta

    2015-01-01

    Full Text Available Cleidocranial dysplasia is a heritable skeletal dysplasia and one of the most common features of this syndrome is multiple impacted supernumerary teeth. Cone-beam computed tomography, the most recent advancement in maxillofacial imaging, provides the clinician to view the morphology of the skull and the dentition in all three dimensions and help in treatment planning for the patient.

  20. Cleidocranial Dysplasia Case Report: Remodeling of Teeth as Aesthetic Restorative Treatment

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    Leonardo Fernandes da Cunha

    2014-01-01

    Full Text Available Cleidocranial dysplasia (CCD, is an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals. It is generally characterized by orofacial manifestations, including enamel hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth. The successful treatment involving a timing intervention (orthodontic-maxillofacial surgeons-restorative is already described. However, the restorative treatment might improve the aesthetic final result in dentistry management for patients with cleidocranial dysplasia. Objective. Therefore, this clinical report presents a conservative restorative management (enamel microabrasion, dental bleaching, and direct composite resin for aesthetic solution for a patient with CCD. Clinical Considerations. The cosmetic remodeling is a conservative, secure, and low cost therapy that can be associated with other procedures such as enamel microabrasion and dental bleaching to achieve optimal outcome. Additionally, the Golden Proportion can be used to guide dental remodeling to improve the harmony of the smile and the facial composition. Conclusions. Thus, dentists must know and be able to treat dental aesthetic problems in cleidocranial dysplasia patients. The intention of this paper is to describe a restorative approach with the cosmetic remodeling teeth (by grinding or addicting material associated with enamel microabrasion and dental bleaching to reestablish the form, shape, and color of smile for patients with cleidocranial dysplasia.

  1. Cleidocranial dysplasia - review with an emphasis on otological and audiological manifestations.

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    Segal, Nili; Puterman, Moshe

    2007-04-01

    Cleidocranial dysplasia is a rare developmental abnormality of bone that affects both the skeleton and the temporal bone. It is genetically characterized and the clinical signs and symptoms can be diverse. Aural pathologies may be the presenting symptoms of the disease. We reviewed the up to date literature on the syndrome with an emphasis on the otological and audiological manifestation.

  2. Cleidocranial dysplasia presenting with retained deciduous teeth and impacted permanent and supernumerary teeth

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    Mahalakshmi Ikkanur Puttaranganaik

    2014-01-01

    Full Text Available Cleidocranial dysplasia is a disease that occurs secondary to a dominant autosomal inheritance. There is no predilection for any genre or ethnic group. As there is a delay in the eruption and/or absence of permanent teeth, the patients usually report to a dental surgeon for replacement of the missing teeth. This condition is characterized by several cranial malformations and underdevelopment, absence of clavicles, and multiple impacted supernumerary and permanent teeth. The diagnosis of the condition is usually based on the presence of the above-mentioned main features and on clinical and familial evidence. Here we report a rare case of cleidocranial dysplasia in a male patient, having most of the characteristic features of this syndrome.

  3. Sibs with cleidocranial dysplasia born to normal parents: Germ line mosaicism?

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    Zackai, E.H.; Robin, N.H.; McDonald-McGinn, D.M. [Children`s Hospital of Philadelphia, PA (United States)

    1997-04-14

    Cleidocranial dysplasia (CCD) is classically an autosomal dominant disorder. However, the possibility of an autosomal recessive form of CCD has been suggested based on a report of 2 consanguineous families, one with a single affected child, the second with affected sibs, born to normal parents. We present a family with sibs with CCD born to normal parents, and suggest germ line mosaicism as the more likely mechanism for this occurrence. 30 refs., 2 figs., 1 tab.

  4. Cleidocranial Dysplasia Case Report: Remodeling of Teeth as Aesthetic Restorative Treatment

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    Leonardo Fernandes da Cunha; Isabela Maria Caetano; Fernando Dalitz; Carla Castiglia Gonzaga; José Mondelli

    2014-01-01

    Cleidocranial dysplasia (CCD), is an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals. It is generally characterized by orofacial manifestations, including enamel hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth. The successful treatment involving a timing intervention (orthodontic-maxillofacial surgeons-restorative) is already described. However, the restorative treatment might improve the aesthetic final result in dentistry manage...

  5. Multiple, supernumerary retained teeth in the course of cleido-cranial dysplasia. A case report.

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    Lewandowski, Bogumił; Martula-Gala, Katarzyna; Brodowski, Robert; Zych, Barbara

    2015-01-01

    Cleido-cranial dysplasia, often referred to as Scheuthauer-Marie-Sainton syndrome, is an autosomal dominant disorder of the musculo-skeletal system. Patients with cleido-cranial dysplasia are characterized by short stature, frequent varus or valgus hip, kyphoscoliosis, underdevelopment of the scapulas and the sternum, incorrect number of ribs. The most characteristic feature is unilateral or bilateral, partial or total underdevelopment of clavicles. Mental development is not affected in this syndrome. Malocclusion, occlusal irregularities, multiple supernumerary teeth, impacted teeth, and persistent milk teeth are found in the stomatognathic system. Teeth often have abnormal anatomy. Gothic palate, cleft hard and soft palate are diagnosed. The aim of this paper is to present a case of a 12-year-old boy diagnosed with irregularities in the masticatory system involving an additional number of retained teeth. The boy was referred by an orthodontist for surgical and orthodontic team therapy. The case presented confirms the observations of other authors that only the multi-specialty collaboration of a pediatrician, a geneticist, an orthopedist, an orthodontist, a maxillofacial surgeon, an implant prosthetic surgeon and a physiotherapist can provide proper diagnosis and treatment.

  6. Cleidocranial dysostosis

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    ... JA. Skeletal dysplasias. In: Herring JA, ed. Tachdjian's Pediatric Orthopaedics . 5th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 40. Horton WA, Hecht JT. Disorders involving transcription factors. In: Kliegman RM, ... . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 698. ...

  7. A gene for cleidocranial dysplasia to the short arm of chromosome 6

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    Feldman, G.F.; Muenke, M.; Robin, N.H.; Zackai, E.H. [Children`s Hospital of Philadelphia, PA (United States)]|[Univ. of Pennsylvania, Philadelphia, PA (United States); Gasser, D.L.; Bailey, C. [Univ. of Pennsylvania, Philadelphia, PA (United States); Siegel-Bartelt, J. [Hospital for Sick Children, Toronto (Canada); Brueton, L.A.; Robertson, E.; Thompson, E.M.

    1995-04-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant generalized bone dysplasia characterized by mild-to-moderate short stature, clavicular aplasia or hypoplasia, supernumerary and ectopic teeth, delayed eruption of secondary teeth, a characteristic craniofacial appearance, and a variety of other skeletal anomalies. We have performed linkage studies in five families with CCD, with 24 affected and 20 unaffected individuals, using microsatellite markers spanning two candidate regions on chromosomes 8q and 6. The strongest support for linkage was with chromosome 6p microsatellite marker D6S282 with a two-point lod score of 4.84 ({theta} = .03). Furthermore, the multipoint lod score was 5.70 in the interval between D6S282 and D6S291. These data show that the gene for autosomal dominant CCD is located within a 19-cM interval on the short arm of chromosome 6, between D6S282 and D6S291. 25 refs., 3 figs., 1 tab.

  8. Advantages of cone beam computed tomography (CBCT in the orthodontic treatment planning of cleidocranial dysplasia patients: a case report

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    Zotti Francesca

    2011-02-01

    Full Text Available Abstract Our aim was to discuss, by presenting a case, the possibilities connected to the use of a CBCT exam in the dental evaluation of patients with Cleidocranial Dysplasia (CCD, an autosomal dominant skeletal dysplasia with delayed exfoliation of deciduous and eruption of permanent teeth and multiple supernumeraries, often impacted. We think that CBCT in this patient was adequate to accurately evaluate impacted teeth position and anatomy, resulting thus useful both in the diagnostic process and in the treatment planning, with an important reduction in the radiation dose absorbed by the patient.

  9. A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia.

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    Fang, C Y; Xue, J J; Tan, L; Jiang, C H; Gao, Q P; Liang, D S; Wu, L Q

    2011-12-14

    We identified a disease-causing mutation of the RUNX2 gene in a four-generation Chinese family affected with cleidocranial dysplasia (CCD). For mutation analysis, the coding region of RUNX2 was sequenced with DNA from two patients and three unaffected family members. The RUNX2 mutation was investigated in 50 normal controls by denaturing high pressure liquid chromatography. A heterozygous single-base deletion (c.549delC) of RUNX2, which predicts a termination site at the 185th codon and leads to a stop in the runt domain of RUNX2 protein, was detected in both patients but not in the three unaffected members of the family. This mutation was also not found in 50 controls and has not been reported previously. We demonstrated that a novel mutation (c.549delC) of RUNX2 is associated with CCD in a Chinese family, adding to the repertoire of RUNX2 mutations related to CCD.

  10. Cleidocranial dysplasia presenting with retained deciduous teeth in a 15-year-old girl: a case report

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    C Nagarathna

    2012-01-01

    Full Text Available Abstract Introduction Cleidocranial dysplasia is a rare congenital defect of autosomal dominant inheritance caused by mutations in the Cbfa1 gene, also called Runx2, located on the short arm of chromosome 6. It primarily affects bones which undergo intramembranous ossification. This condition is of clinical significance to dentistry due to the involvement of the facial bones, altered eruption patterns and multiple supernumerary teeth. Case presentation Our patient, a 15-year-old Indian girl, presented with the typical features of prolonged retention of deciduous dentition and delayed eruption of permanent teeth, that is, mandibular prognathism along with other skeletal abnormalities like shrugged shoulder and the absence of clavicles. A multidisciplinary approach was followed, comprising orthodontic, surgical and pedodontic teams for management. Conclusion Successful treatment of such a case lies in a holistic approach that takes care of all aspects, including the primary pathology, the deformity itself and even the psychological angle.

  11. Histological examination and clinical evaluation of the jawbone of an adult patient with cleidocranial dysplasia: a case report

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    Schnutenhaus, Sigmar; Luthardt, Ralph G; Rudolph, Heike; Götz, Werner

    2015-01-01

    Objectives: Cleidocranial dysplasia (CCD) is a rare congenital malformation syndrome, inherited autosomal-dominantly. During a course of treatment including surgical, implantological and restorative procedures, an opportunity arose to histologically examine biopsies of the maxilla and mandible of a CCD patient 47 years of age. Case report: The aim of this case report is to present the results of the histological evaluation of the alveolar bone and the surgical pretreatment for and placement of six implants each in the maxilla and the mandible. The implants were inserted in a minimally invasive procedure using 3D template guidance. Following uneventful healing of the implants, ceramically veneered bridges were cemented on individual titanium abutments. Since the patient had not received orthodontic treatment in childhood-which would have been the treatment modality of choice-this implantological and prosthodontic approach was necessary. Biopsies were taken from the maxilla and the mandible before placing the implants. Histological evaluation showed bone with strong, coarsely interconnecting trabeculae, especially in the maxilla. Both the bone and the gingiva otherwise exhibited a normal structure without pathological features or anomalies. Conclusion: The clinical parameters and histological evaluation of this one clinical case suggest that the concepts familiar from general oral implantology in terms of surgical and prosthetic procedures can be adopted for older patients with CCD. PMID:26339428

  12. Oro-facial considerations in a case of cleidocranial dysplasia–A review of the medical and dental management protocols

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    Uday Kumar UMESAN

    2012-11-01

    Full Text Available Cleidocranial dysplasia (CCD is a rare, hereditary, congenital disorder inherited in an autosomal dominant pattern and is characterised by cranio-facial, skeletal and oro-dental malformations. The typical patient is short, presents a brachiocephalic skull with bossing of the frontal and parietal bones. Cephalic sutures and fontanelles exhibit delayed closure. The mid-face is hypoplastic, giving a misleading appearance of mandibular prognathism. The development of the clavicles is often defective and may range from a small medial gap to total agenesis. Medical issues include delayed attainment of developmental milestones, scoliosis, skeletal, pelvic and thoracic abnormalities. However, oro-dental malformations are important and can be significant. A 17-year-old Malay girl presented to the National Dental centre with complaints of unsightly front teeth. General and radiographic examination revealed features consistent with CCD. Dental clinical findings corroborated radiographically utilising conventional radiography and Cone Beam Computed Tomography uncovered an intact, retained deciduous dentition with multiple unerupted permanent and supernumerary teeth. A diagnosis of CCD was made based on the typical clinical and radiographic features and various management options explored. This condition is of clinical significance to the medical profession and more so for the orthodontist due to involvement of the facial bones, altered teeth eruption patterns and presence of supernumerary teeth. These problems represent a challenge to the clinician who must often seek a multi-disciplinary approach for successful management of this anomaly. Various treatment protocols and their shortcomings with respect to the case are discussed.

  13. Hiperodoncia múltiple y su relación con la displasia cleidocraneal Multiple hyperdontia and its relationship with cleidocranial dysplasia

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    J. Harris Ricardo

    2013-02-01

    Full Text Available La hiperodoncia son alteraciones del desarrollo dentario que exceden de la fórmula dental normal, se presentan diversas clasificaciones dependiendo de su localización, forma, número y medio ambiente, la hiperactividad de las células epiteliales de la lámina dental y la dicotomía son las teorías más aceptadas que intentar explicar su etiología; frecuentemente se detectan en el examen radiográfico de rutina. El diagnóstico y tratamiento temprano de un diente supernumerario, evita una serie de complicaciones como retrasos en su erupción dental, rotaciones, desplazamientos, apiñamiento, diastemas, entre otros; también pueden estar asociados a síndromes genéticos como la Displasia cleidocraneal. Se reporta caso de paciente masculino de 12 años, que presenta características clínicas y radiográficas compatibles con la Displasia cleidocraneal, en el cual se observaron 8 dientes supernumerarios, 4 localizados en el maxilar y 4 en la mandíbula.The hiperodoncia are disorders of tooth development that exceed the normal dental formula, there are different classifications depending on their location, shape, number and environment, the hyperactivity of the epithelial cells of the dental lamina and the dichotomy are the most accepted theories that attempt to explain its etiology, is frequently detected in routine radiographic examination. The diagnosis and early treatment of a supernumerary tooth, avoid a number of complications and delays in tooth eruption, rotation, displacement, crowding, spacing, among others, may also be associated with genetic syndromes such as cleidocranial Dispalsia. We report the case of male patient 12 years, presenting clinical and radiographic features consistent with cleidocranial Dispalsia, in which supernumerary teeth were 8, 4 located in the jaw and 4 jaw.

  14. Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.

    Science.gov (United States)

    Fernandez, B A; Siegel-Bartelt, J; Herbrick, J-A S; Teshima, I; Scherer, S W

    2005-10-01

    Holoprosencephaly (HPE) is a genetically heterogeneous developmental field defect in which midline cleavage of the forebrain and craniofacial structures is impaired. Based on the analysis of HPE patients with chromosome rearrangements, at least six loci for the disorder have been assigned. The sonic hedgehog gene (SHH) at 7q36 has been identified as the HPE3 locus. Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder characterized by clavicular, pelvic and dental anomalies. It is caused by mutations in the osteoblast-specific transcription factor CBFA1/RUNX2, which maps to 6p21. We report a 20-year-old female with premaxillary agenesis (part of the HPE spectrum), as well as skeletal abnormalities and impacted teeth reminiscent of CCD. She carries a de novo 6;7 reciprocal translocation, with breakpoints at 6p21.1 and 7q36. We have shown previously that the 7q36 breakpoint maps 15 kb telomeric to the 5' end of SHH, which explains the patient's HPE phenotype. Now, using fluorescence in situ hybridization, we have identified a P1 artificial chromosome clone 800 kb upstream of CBFA1/RUNX2 that spans the 6p breakpoint. We propose that the proband's complex phenotype is due to two position-effect (PE) mutations, one at each translocation breakpoint, which have altered the expression of the SHH and CBFA1/RUNX2 genes. The role of PE mutations in human disease is also reviewed.

  15. MRI of the cerebellopontine angle in patients with cleido-cranial dysostosis; MRT der Kleinhirnbrueckenwinkelregion bei Patienten mit Dysostosis cleido-cranialis

    Energy Technology Data Exchange (ETDEWEB)

    Scherer, A.; Engelbrecht, V.; Nawatny, J.; Moedder, U. [Duesseldorf Univ. (Germany). Inst. fuer Diagnostische Radiologie; Messing-Juenger, M. [Duesseldorf Univ. (Germany). Neurochirurgische Klinik; Reifenberger, G. [Duesseldorf Univ. (Germany). Inst. fuer Neuropathologie

    2001-04-01

    Purpose: Cleidocranial dysostosis (CCD) is an autosomal dominant bone disorder in which deafness is common secondary to malformation of the middle ear structures. The study aimed at MRI evaluation of the cerebellopontine angle in 7 patients with a history of CCD - two generation spanned relatives. Material and methods: Cranial MRI in 7 patients with CCD (4 women/3 men aged between 8 and 46 years) was performed. In two patients hearing disorders were present. The examinations encompassed multi-planar spinecho sequences of the cerebellopontine angle in 3-mm slice thickness before and after administration of contrast medium. Results: The clinically most conspicuous female patient (hearing loss, ataxia, headache) showed a strongly contrast-enhancing tumor in MRI that was histologically proved to be an acoustic schwannoma. Concerning the other family members, no pathological findings were noted except for non-pneumatized mastoids. Conclusion: The first report of a patient with CCD and an acoustic schwannoma shows that in case of hearing loss in these patients also a retrocochlear cause must be considered. (orig.) [German] Ziel: Die Dysostosis cleido-cranialis (DCC) ist eine autosomal-dominant erbliche Knochenerkrankung, bei der aufgrund von Mittelohrmissbildungen gehaeuft Hoerstoerungen beobachtet werden. Wir ueberpruefen bei 7 von diesem Syndrom betroffenen Verwandten 1. und 2. Grades, ob sich kernspintomographisch Auffaelligkeiten der Kleinhirnbrueckenwinkelregion nachweisen lassen. Material und Methoden: MRT-Untersuchungen des Schaedels bei 7 Patienten mit DCC (4 Frauen, 3 Maenner im Alter zwischen 8 und 46 Jahren). Bei zwei Patienten lagen klinisch Hoerstoerungen vor. Die Bildgebung umfasste multiplanare Spin-Echo-Sequenzen und wurde im Bereich des Kleinhirnbrueckenwinkels in 3 mm Schichtdicke vor und nach Gadoliniumgabe durchgefuehrt. Ergebnisse: Die klinisch auffaelligste Patientin (progredienter Hoerverlust, Ataxie, Cephalgien) zeigte in der MRT einen kraeftig

  16. Analysis of root resorption and dental structure in patients with cleidocranial dysplasia%颅骨锁骨发育不良患者乳牙牙根吸收特点及牙齿结构分析

    Institute of Scientific and Technical Information of China (English)

    杨祥; 张趁英; 郑树国

    2011-01-01

    目的:研究颅骨锁骨发育不良(cleidocranial dysplasia,CCD)患者乳牙牙根的吸收特点以及乳牙结构的异常.方法:收集CCD患者因治疗需要而拔除的滞留乳牙,在扫描电镜下观察CCD患者乳牙牙根吸收面的情况;同时制备牙齿结构的病理磨片,在偏光显微镜下观察CCD患者牙齿结构的特点.结果:CCD患者具有典型的临床表现.扫描电镜的观察结果显示,与正常对照相比,CCD患者乳牙牙根的吸收陷窝表浅,底部平坦、光滑、大小不一,吸收陷窝的数目相对较少.病理磨片显示,CCD患者乳牙的髓腔内有大量不规则的、结构不清晰的钙化团块沉积,钙化团块的形成量与牙根吸收的程度密切相关;患者乳牙牙根尖1/3处的牙骨质由细胞性或无细胞性牙骨质构成.结论:CCD患者乳牙牙根的吸收特点与正常乳牙不一致,患者髓腔内钙化团块的形成可能与牙髓细胞在牙根吸收时的调控功能异常有关,根部牙骨质的类型可能不是乳牙滞留的因为.%Objective : To observe the morphologic characteristic of root resorption surfaces and the histological structure of primary teeth in patients with cleidocranial dysplasia ( CCD ) . Methods : The primary teeth of CCD patients were collected, the resorption lacunae of which were analyzed by scanning electron microscope and the histological structure was analyzed by the polarized light microscope. Results : Comparing with the normal teeth, the patients have typically clinical characteristics of CCD. Scanning electron microscopy examination revealed shallower and smoother resorption lacunae at the cervical thirds of the roots, and dentinal tubules were relatively uncommon. Ground examination of primary teeth under the polarized light microscope showed massive and irregular calcification formed in the pulp chamber in response to root resportion. The apical thirds of roots were covered by cellular or acellular cementum. Conclusion: Root

  17. 颅骨锁骨发育不全患者牙囊细胞的体外生物学特征%Invitro biologic characteristics of dental follicle cells with cleidocranial dysplasia

    Institute of Scientific and Technical Information of China (English)

    戈杰; 张娟; 郭松松; 傅瑜; 江宏兵

    2014-01-01

    目的:在成功分离培养正常同龄人牙囊细胞(dental follicle cells,DFCs)与颅骨锁骨发育不全(cleidocranial dysplasia, CCD)患者牙囊细胞(DFCs-CCD)的基础上,研究其一般体外生物学特征,包括增殖、克隆、成骨及破骨能力。方法:采用 BrdU细胞增殖实验与倍增法研究两种来源 DFCs 增殖能力;用结晶紫染液染色培养12 d 的两种 DFCs,分析其克隆形成能力;并用成骨诱导液诱导两种 DFCs 成骨,用 Western blot 和茜素红染色法分析成骨能力,用实时定量 PCR 方法研究其破骨基因表达差异。结果:DFCs-CCD 的 BrdU 阳性率高于 DFCs,同时 DFCs 的群体倍增时间为(1.834±0.093)d,而 DFCs-CCD 的则为(1.394±0.028)d,差异具有统计学意义(P <0.05);DFCs-CCD 的克隆集落多于 DFCs,但 Runt 相关转录因子2(Runt-related transcrip-tion factor 2,Runx2)、成骨细胞特异性转录因子 Osterix、骨钙素(osteocalcin,Ocn)等成骨相关蛋白表达水平低,而其茜素红染色所示钙化结节同样较少;同时,DFCs-CCD 高表达核因子-κB 受体活化因子(receptor activator for nuclear factor-κB,RANK)和骨保护素(osteoprotegerin,OPG)等破骨相关基因(P <0.05),而核因子-κB 受体活化因子配体(receptor activator for nuclear factor-κB ligand,RANKL)水平无统计学差异(P >0.05)。结论:相比 DFCs,DFCs-CCD 具有更强的增殖、克隆能力和更弱的成骨能力,而破骨基因表达紊乱。%Objective:To study the invitro biologic characteristics of dental follicle cells with cleidocranial dysplasia (DFCs-CCD) including proliferation ability,clone-forming efficiency,osteogenesis and osteoclastogenesis abilities.Methods:Brdu cell proliferation and population doubling time assays for cell proliferationo ability,crystal violet staining with cells cultured for 12 days for clone

  18. Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern

    African Journals Online (AJOL)

    This paper presents a case of CCD in a female with brachycephalic skull, ... the first professional who patient of CCD approaches, since there is a delay in the eruption .... cysts and multiple osteomas distinguishes Gardner's syndrome.

  19. 颅锁骨发育不良的三个RUNX2基因新突变%Identification of three novel frameshift mutations in the RUNX2 gene in three sporadic Chinese cases with cleidocranial dysplasia

    Institute of Scientific and Technical Information of China (English)

    齐展; 杨威; 孟岩; 刘雅萍

    2014-01-01

    目的 通过对3例散发的颅锁骨发育不良患者进行RUNX2基因编码区的扩增及测序,寻找RUNX2基因突变,为家系进行遗传咨询和产前诊断提供依据.方法 抽取患者及其父母外周血,提取基因组DNA,PCR扩增RUNX2基因的7个编码外显子并测序;并对患者突变所在外显子的PCR产物经T-A克隆后再次测序.结果 例1的RUNX2第1外显子发生了1个80bp的c.227_306del杂合性缺失突变,引起读码框移位并提前出现终止密码(p.Ala76GlyfsX58);例2的RUNX2第2外显子发生了1个c.471_472dupGG杂合重复突变,亦导致读码框改变及提前出现终止密码(p.Ala158GlyfsX19);例3的R UNX2第17显子发生了1个c.1321dupT杂合重复突变,同样导致读码框改变和提前出现终止密码(p.Ser370PhefsX13).这三个移码突变经查询HGMD突变数据库及国内外文献均未见报道.结论 发现了3种新的导致颅锁骨发育不良的RUNX2基因突变,新的突变扩展了RUNX2基因的突变谱,可为这些家系提供准确可靠的遗传咨询和产前诊断.%Objective To investigate the molecular etiology of three patients with sporadic cleidocranial dysplasia (CCD) and to provide genetic counseling and prenatal diagnosis for the family members based on the identified mutations.Methods Genomic DNA was extracted from peripheral blood samples using a standard method.All 7 coding exons of the RUNX2 gene and their flanking intronic sequences were amplified by PCR and sequenced directly.The PCR products of the exons with mutations from the three patients were cloned into a T-vector.Positive clones were sequenced.Results The three patients who have the typical CCD phenotypes involving clavicles,calvarium,stature,and teeth have carried various frameshift mutations in the RUNX2 gene.Patient 1 has a gross deletion of 80 nucleotides in exon 1 (c.227_306del),which caused a frameshift beginning at the Q/A repeat of the polypeptide and a premature termination (p.Ala76GlyfsX58).Patient

  20. Study of proliferation,osteogenesis and senescence of bone marrow stromal cells from a cleidocranial dysplasia patient%颅骨锁骨发育不全患者骨髓基质细胞的增殖、成骨和衰老

    Institute of Scientific and Technical Information of China (English)

    张娟; 戈杰; 李光南; 周培培; 江宏兵

    2015-01-01

    目的:骨髓基质细胞(bone marrow stromal cells,BMSCs)在调节颅骨锁骨发育不全(cleidocranial dysplasia,CCD)患者骨结构中发挥关键作用,本研究通过与正常 BMSCs 比较分析,探讨 CCD 患者 BMSCs 的体外增殖、成骨分化、干性及衰老特征。方法:分离培养 CCD 患者及正常同龄人 BMSCs;甲基噻唑基四唑(MTT)法及流式细胞周期分析其增殖能力;成骨诱导后采用Western blot 及茜素红染色分析其成骨能力;检测多潜能转录因子及克隆形成,分析其干性能力;检测衰老调控关键基因 p16、p21表达及通过β-gal 衰老染色分析其衰老特征。结果:与正常 BMSCs 相比,BMSCs-CCD 增殖活性低,且细胞周期中处于 S期、G2的细胞比例较低;两组细胞成骨诱导1、3、7 d 后,BMSCs-CCD 组中 Runt 相关转录因子2(Runt-related transcription factor 2,Runx2)、成骨细胞特异性转录因子 Osterix、骨桥蛋白(Osteopontin,Opn)表达水平较正常组低;成骨诱导14 d 后,BMSCs-CCD组形成的钙化结节较正常组少;BMSCs-CCD 组中多潜能转录因子 Oct4、Nanog、Sox2表达及克隆形成率均较正常组低;相反, BMSCs-CCD 组中 p16、p21等衰老标记分子表达及衰老细胞阳性染色比例均较正常组高。结论:同正常 BMSCs 比较,CCD 患者 BMSCs 的增殖能力、成骨能力、干性强度均较差,且更易衰老。这些特征可能是 CCD 患者易发骨质疏松及骨折的生物学机制之一。%Objective:To study the in vitro biologic characteristics of bone marrow stromal cells with cleidocranial dysplasia (BM-SCs-CCD),including osteogenesis,proliferation ability,stemness and senescence.Methods:MTT and cell cycle detection for prolifera-tion ability,Western blot and alizarin red staining for osteogenesis ability,Western blot and clony-formation for stemness ability,Western blot and senescence staining for senescence characteristics

  1. Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET

    NARCIS (Netherlands)

    Shalom-Feuerstein, R.; Serror, L.; Aberdam, E.; Muller, F.J.; Bokhoven, H. van; Wiman, K.G.; Zhou, J.H.; Aberdam, D.; Petit, I.

    2013-01-01

    Ectodermal dysplasia is a group of congenital syndromes affecting a variety of ectodermal derivatives. Among them, ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome is caused by single point mutations in the p63 gene, which controls epidermal development and homeostasis.

  2. Hiperodoncia múltiple y su relación con la displasia cleidocraneal Multiple hyperdontia and its relationship with cleidocranial dysplasia

    OpenAIRE

    J. Harris Ricardo; M. Rebolledo Cobos; N. Fortich Mesa

    2013-01-01

    La hiperodoncia son alteraciones del desarrollo dentario que exceden de la fórmula dental normal, se presentan diversas clasificaciones dependiendo de su localización, forma, número y medio ambiente, la hiperactividad de las células epiteliales de la lámina dental y la dicotomía son las teorías más aceptadas que intentar explicar su etiología; frecuentemente se detectan en el examen radiográfico de rutina. El diagnóstico y tratamiento temprano de un diente supernumerario, evita una serie de c...

  3. Genetics Home Reference: CHOPS syndrome

    Science.gov (United States)

    ... defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia Related Information How are ... Congenital Heart Defect -- Corrective Surgery Encyclopedia: Patent Ductus Arteriosus ...

  4. Genetics Home Reference: otospondylomegaepiphyseal dysplasia

    Science.gov (United States)

    ... the body that this condition affects: the ears (oto-), the bones of the spine (spondylo-), and the ... dwarfism Nance-Insley syndrome Nance-Sweeney chondrodysplasia OSMED oto-spondylo-megaepiphyseal dysplasia Related Information How are genetic ...

  5. Genetics Home Reference: campomelic dysplasia

    Science.gov (United States)

    ... my area? Other Names for This Condition campomelic dwarfism campomelic syndrome camptomelic dysplasia Related Information How are ... Robin Syndrome Health Topic: Bone Diseases Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  6. Tooth in oropharynx

    OpenAIRE

    Nagarajappa, D; B S Manjunatha

    2011-01-01

    The incidence of ectopic teeth has increased. In many cases, the etiology of ectopic teeth cannot be identified. Ectopic tooth in deciduous dentition period is very rare and information is limited about its causes and characteristics. The conditions commonly associated with an increased prevalence of ectopic teeth include cleft lip and palate, cleidocranial dysplasia, and Gardner syndrome. The diagnosis is made by the clinical and radiological examinations. The indication for extraction in ec...

  7. Craniofacial anomalies: from development to molecular pathogenesis.

    Science.gov (United States)

    Rice, David P C

    2005-11-01

    Advances in developmental biology combined with progress in human genetics are helping us decipher how the craniofacial region develops and how the consequences of misdirected development result in malformation. This review describes the molecular etiology of a number of craniofacial developmental anomalies. The more common craniofacial anomalies cleft lip and palate and craniosynostosis, as well as cleidocranial dysplasia, hemifacial microsomia, holoprosencephaly, enlarged parietal foramina, Treacher Collins syndrome and cherubism are discussed.

  8. Cleido cranial dysplasia: report of a family.

    Science.gov (United States)

    González López, Blanca Silvia; Ortiz Solalinde, Clara; Kubodera Ito, Toshio; Lara Carrillo, Edith; Ortiz Solalinde, Estela

    2004-12-01

    A family case of Cleidocranial Dysplasia is presented. A mother and two adolescent girls were examined. In all three cases, a radiological series was performed over the entire body. Generalized dysplasia in bones, prolonged retention of primary teeth, and delayed eruption of permanent, as well as supernumerary teeth was diagnosed. The citogenetic study with GTG band showed normal 46, XX. Bilateral audiometry in the mother demonstrated a mild to moderate hypoacustic condition. Radiological findings are presented and the importance of early diagnosis is discussed.

  9. Genetic craniofacial aberrations.

    Science.gov (United States)

    Pirinen, S

    1998-12-01

    Many craniofacial and dental anomalies have a genetic background. Much research related to the molecular pathology of genetic conditions is being carried out, and new information related to mapping of disease genes, gene identification, and mutations in these genes is accumulating with incredible speed. It is important to be well informed of the molecular background of the conditions that we treat at anomaly clinics. This article reviews the most recent molecular findings related to Turner syndrome, Beckwith-Wiedemann syndrome, Marfan syndrome, Treacher Collins syndrome, cleidocranial dysplasia, and cleft lip and palate.

  10. Scheuthauer-Marie-Sainton syndrome

    Directory of Open Access Journals (Sweden)

    Vikas Elias Kuruvila

    2012-01-01

    Full Text Available Scheuthauer-Marie-Sainton syndrome also known as Cleidocranial dysplasia (CCD is an autosomal dominant disorder characteristically presented with multiple supernumerary teeth; partial or complete absence of the clavicles; and open sagittal sutures and fontanelles. This condition was first reported by Meckel in 1760. There is also evidence that it existed in the prehistoric man. More than 1,000 cases have been reported in the medical literature regarding this syndrome. A case of a 35-year-male of CCD with multiple supernumerary teeth is being reported. The diagnostic and management aspects of this syndrome are discussed.

  11. Patients with isolated oligo/hypodontia caused by RUNX2 duplication.

    Science.gov (United States)

    Molin, Arnaud; Lopez-Cazaux, Serena; Pichon, Olivier; Vincent, Marie; Isidor, Bertrand; Le Caignec, Cédric

    2015-06-01

    Loss-of-function mutations of RUNX2 are responsible for cleidocranial dysplasia, an autosomal dominant disorder characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavicles, moderate short stature and supernumerary teeth. By contrast, an increased gene dosage is expected for duplication of the entire RUNX2 sequence and thus, a phenotype different from cleidocranial dysplasia. To date, two cousins with a duplication including the entire RUNX2 sequence in addition to MIR586, CLIC5 and the 5' half of SUPT3H have been reported. These patients presented with metopic synostosis and hypodontia. Here, we report on a family with an affected mother and three affected children. The four patients carried a 285 kb duplication identified by array comparative genomic hybridization. The duplication includes the entire sequence of RUNX2 and the 5' half of SUPT3H. We confirmed the duplication by real-time quantitative PCR in the four patients. Two children presented with the association of metopic craniosynostosis and oligo/hypodontia previously described, confirming the phenotype caused by RUNX2 duplication. Interestingly, the mother and one child had isolated hypodontia without craniosynostosis, broadening the phenotype observed in patients with such duplications.

  12. SÜPERPOZİSYON APAREYLERT-OVERDENTURE PROSTHESIS

    OpenAIRE

    Keskin, Haluk; Somtürk, Esra; Karakullukçu, Aytaç; İyigün, Dilek; Derviş, Emel; Uygun, Nurcan

    2013-01-01

    ÖZETSüperpozisyon apareyleri, prepare edilerek veya edilmeden ağızda bırakılan destek dişler ya da kökler üzerine uygulanan total veya haraketlİ parsiyel protezlerdir. Bu tür protezler; dikey boyutun azaldığı durumlarda arttırılmasına ve fasial kontumu mümkün olduğunca düzeltilerek estetiğin teminine yardımcı olurlar. Yarık damak, oligodontia, cleidocranial dysostosis gibi konjenital defektler ve III. sınıf maloklüzyonlar overdentu-re protezler için iyi birer endikasyon oluştururlar. Overlay ...

  13. 3-D analysis of tooth formation and eruption in patients with craniofacial anomalies

    DEFF Research Database (Denmark)

    Kreiborg, Sven; Larsen, Per; Bro-Nielsen, Morten

    1996-01-01

    A number of craniofacial anomalies or syndromes involve severe disturbances of tooth formation and eruption (e.g. Apert syndrome, Crouzon syndrome, tricho-dento-osseous syndrome, cleidocranial dysplasia, and cleft lip and palate). So far, studies of these dental problems have been limited to two......-dimensional analysis from orthopantomograms, intra-oral X-rays or cephalometric radiographs. A method for visualization of the developing tooth crowns in three dimensions based on CT-scans of the jaws has been developed (Bro-Nielsen et al., 1996). The purpose of the present study was to apply this new visualization...... method to the analysis of the complex dental problems found in some of the syndromes listed above....

  14. Multiple Supernumerary Teeth in a Non-Syndromic Patient: A Case Report

    Directory of Open Access Journals (Sweden)

    Majid Eshgh Pour

    2013-01-01

    Full Text Available Introduction: Multiple supernumerary teeth are a rare phenomenon. It occurs more often in patients with syndromes such as Gardner's syndrome, cleidocranial dysplasia and so on. This phenomenon in absence of such syndromes is rare. The purpose of this report was to introduce a case of non-syndromic multiple supernumerary impacted teeth.Case Report: A 29-year-old woman with no skeletal, metabolic, systemic and mental disorder was referred to oral and maxillofacial department of Mashhad dental school. In clinical evaluation, seven Permanent teeth were missing. In radiographic evaluation, there were a total of 15 impacted teeth which 7 of them were supernumerary.Conclusion: Missing or Excess of one or more teeth usually leads to occlusal and functional problems. In these cases, a complete clinical and radiographic examination accompanieal by a precise history should be performed to plan a suitable surgical-orthodontic-prosthetic treatment.

  15. Yunis-Varón syndrome: the first report of two Iranian cases.

    Directory of Open Access Journals (Sweden)

    Zahra Hadipour

    2014-01-01

    Full Text Available The Yunis-Varón syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles (cleidocranial dysplasia, absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, growth retardation and poor outcome. The molecular genetic basis is unknown. Here, we report an 8 months old girl with Yunis-Varón syndrome, born to a consanguineously married, with normal parents. She had micrognathia, wide fontanels, prominent eyes, poor sucking, congenital heart diseases, asymmetric face, ambiguous genitalia, reduction anomaly in right hand including thumb, and hypoplastic distal phalanges of 3th fingers, and hypo plastic clavicles. She has glaucoma and lenses opacity. There is another similar case in her family. Karyotype is normal. She is the first Iranian known case of Yunis-Varón syndrome.

  16. Non-syndromic multiple supernumerary premolars: Clinicoradiographic report of five cases

    Directory of Open Access Journals (Sweden)

    Renu Tanwar

    2017-03-01

    Full Text Available Hyperdontia or supernumerary teeth in both arches without any syndromic manifestation are extremely rare. Supernumerary teeth are commonly associated with Gardner’s syndrome, cleft lip and palate, cleidocranial dysplasia and trichorhinopha-langeal syndrome. Five cases of non-syndromic multiple premolars of maxillary and mandibular arches in Indian patients are presented here. This case series reports three cases with multiple (9 in maximum, bilaterally impacted and erupted supernumerary teeth and two cases with supernumerary premolars in non-syndromic cases from Indian patients. Supernumerary teeth can be present in any region of the oral cavity. Although the occurrence of maxillary para-premolars is rare, radio-logical investigations play a major and decisive role in determining the management of such cases.

  17. Sequential supernumerary teeth development in a non-syndromic patient; report of a rare case.

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    Mohammad Jafarian

    2013-12-01

    Full Text Available Isolated impacted supernumerary teeth are quite rare, but they can be seen associated with several syndromes such as cleidocranial dysostosis or Gardner's syndrome. This article aims to discuss a case of sequential formation of supernumerary teeth with no other associated disease or syndrome. A 17-year-old Iranian male with 8 impacted supernumerary teeth was referred to the department of pediatric dental clinic at Shahid Beheshti Medical University in Tehran with a history of several impacted unerupted teeth. Repeated and periodical clinical and radiographic examinations revealed newly formed teeth buds in unusual dental ages. All extra teeth were associated with generalized enamel hypoplasia to some degree on their relative permanent adjacent teeth. The patient did not have any record of a systemic disease or any syndromic condition to relate his dental problem to. This rare condition involved repeated and continued formation of extra teeth out of the normal numbers and dental age evident in serial radiographs.

  18. Multiple bilateral supernumerary mandibular premolars in a non-syndromic patient with associated orthokeratised odontogenic cyst- A case report and review of literature

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    Vikrant O Kasat

    2012-01-01

    Full Text Available Multiple supernumerary teeth are very rare, accounting for less than 1% of cases. They are commonly associated with syndromes like Gardner′s syndrome and cleidocranial dysostosis and cleft lip and palate. Non-syndromic multiple supernumerary teeth have a predilection to occur in the mandibular premolar region. Orthokeratinized odontogenic cyst (OOC is a relatively uncommon developmental cyst comprising about 10% of the cases that had been previously implied as odontogenic keratocysts. More than half of the cases of OOC are associated with impacted tooth; but not a single case of OOC associated with supernumerary teeth is reported. Hence, the purpose of this article is to report the first case of multiple supernumerary mandibular premolars associated with OOC in a 35-year-old male and to review the literature associated with multiple bilateral supernumerary mandibular premolars.

  19. Tooth in oropharynx

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    D Nagarajappa

    2011-01-01

    Full Text Available The incidence of ectopic teeth has increased. In many cases, the etiology of ectopic teeth cannot be identified. Ectopic tooth in deciduous dentition period is very rare and information is limited about its causes and characteristics. The conditions commonly associated with an increased prevalence of ectopic teeth include cleft lip and palate, cleidocranial dysplasia, and Gardner syndrome. The diagnosis is made by the clinical and radiological examinations. The indication for extraction in ectopic teeth cases is in general determined by the presence of symptomatology, or by the need for preventing future complications. We present a case of an ectopic maxillary tooth in a 4 year-old boy. In addition, this report also addresses a young patient with a tooth in the oropharynx with the objective of non traumatic etiology, and such a clinical presentation is extremely rare. The authors believe the case presented here is the first documented case of an ectopic supernumerary tooth seen in the oropharynx.

  20. Tooth in oropharynx.

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    Nagarajappa, D; Manjunatha, Bs

    2011-09-01

    The incidence of ectopic teeth has increased. In many cases, the etiology of ectopic teeth cannot be identified. Ectopic tooth in deciduous dentition period is very rare and information is limited about its causes and characteristics. The conditions commonly associated with an increased prevalence of ectopic teeth include cleft lip and palate, cleidocranial dysplasia, and Gardner syndrome. The diagnosis is made by the clinical and radiological examinations. The indication for extraction in ectopic teeth cases is in general determined by the presence of symptomatology, or by the need for preventing future complications. We present a case of an ectopic maxillary tooth in a 4 year-old boy. In addition, this report also addresses a young patient with a tooth in the oropharynx with the objective of non traumatic etiology, and such a clinical presentation is extremely rare. The authors believe the case presented here is the first documented case of an ectopic supernumerary tooth seen in the oropharynx.

  1. Supernumerary teeth in non-syndromic patients

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    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

    2012-03-15

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  2. Rare causes of scoliosis and spine deformity: experience and particular features

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    Pliarchopoulou Fani M

    2007-10-01

    Full Text Available Abstract Background Spine deformity can be idiopathic (more than 80% of cases, neuromuscular, congenital or neurofibromatosis-related. However, there are many disorders that may also be involved. We present our experience treating patients with scoliosis or other spine deformities related to rare clinical entities. Methods A retrospective study of the records of a school-screening study in North-West Greece was performed, covering a 10-year period (1992–2002. The records were searched for patients with deformities related to rare disorders. These patients were reviewed as regards to characteristics of underlying disorder and spine deformity, treatment and results, complications, intraoperative and anaesthesiologic difficulties particular to each case. Results In 13 cases, the spine deformity presented in relation to rare disorders. The underlying disorder was rare neurological disease in 2 cases (Rett syndrome, progressive hemidystonia, muscular disorders (facioscapulohumeral muscular dystrophy, arthrogryposis in 2 patients, osteogenesis imperfecta in 2 cases, Marfan syndrome, osteopetrosis tarda, spondyloepiphyseal dysplasia congenita, cleidocranial dysplasia and Noonan syndrome in 1 case each. In 2 cases scoliosis was related to other congenital anomalies (phocomelia, blindness. Nine of these patients were surgically treated. Surgery was avoided in 3 patients. Conclusion This study illustrates the fact that different disorders are related with curves with different characteristics, different accompanying problems and possible complications. Investigation and understanding of the underlying pathology is an essential part of the clinical evaluation and preoperative work-up, as clinical experience at any specific center is limited.

  3. The C. elegans CBFbeta homolog, BRO-1, regulates the proliferation, differentiation and specification of the stem cell-like seam cell lineages.

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    Xia, Dan; Zhang, Yuxia; Huang, Xinxin; Sun, Yinyan; Zhang, Hong

    2007-09-15

    The RUNX/CBFbeta heterodimeric transcription factor plays an important role in regulating cell proliferation and differentiation in a variety of developmental contexts. Aberrant function of Runx and CBFbeta has been causally related to the development of various diseases, including acute myeloid leukemia, gastric cancer and cleidocranial dysplasia. The underlying mechanism of the RUNX/CBFbeta complex in regulation of cell proliferation is still poorly defined. In this study, we demonstrate that the Caenorhabditis elegans CBFbeta homolog, bro-1, is essential for the proliferation, differentiation and specification of a row of stem cell-like lineages, called seam cells. BRO-1 forms complex with the C. elegans RUNX homolog, RNT-1, and augments the DNA-binding activity of RNT-1. The RNT-1/BRO-1 complex directly interacts with the C. elegans Groucho homolog, UNC-37, whose loss of function mutations display similar defects in the proliferation of seam cells as those of bro-1 and rnt-1 mutants. Additionally, the defects in seam cell division in bro-1 mutants are substantially rescued by the inactivation of the negative regulators of the G1 to S phase cell cycle progression, including the lin-35 Rb, fzr-1 Cdh1 and cki-1 CIP homologs. Our studies indicate that the transcriptional repression activity of the RNT-1/BRO-1 complex regulates the G1 to S cell cycle progression during seam cell division.

  4. Periodontal ligament stem cells modulate root resorption of human primary teeth via Runx2 regulating RANKL/OPG system.

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    Li, Bei; Zhang, Yu; Wang, Qingchao; Dong, Zhiwei; Shang, Linjuan; Wu, Lizheng; Wang, Xiaojing; Jin, Yan

    2014-10-15

    Physiological primary teeth exfoliation is a normal phenomenon during teeth development. However, retained primary teeth can often be observed in the patients with cleidocranial dysplasia (CCD) caused by mutation of Runx2. The potential regulative mechanism is still unknown. In the present study, periodontal ligament stem cells (PDLSCs) were derived from different resorbed stages of primary teeth and permanent teeth from normal patients and primary teeth from CCD patient. The proliferative, osteogenic and osteoclast-inductive capacities of PDLSCs from each group were detected. We demonstrated here that the proliferative ability of PDLSCs was reduced while the osteogenic and the osteoclast-inductive capacity of PDLSCs were enhanced during root resorption. The results also showed that PDLSCs from permanent teeth and CCD patient expressed low level of Runx2 and RANKL while high level of OPG. However, expression of Runx2 and RANKL were increased while expression of OPG was decreased in PDLSCs derived from resorbed teeth. Furthermore, Runx2 regulating the expression of RANKL and OPG and the osteoclast-inductive capacity of PDLSCs were confirmed by gain or loss of function assay. These data suggest that PDLSCs promote osteoclast differentiation via Runx2 upregulating RANKL and downregulating OPG, leading to enhanced root resorption that results in physiological exfoliation of primary teeth.

  5. Non-syndromic supernumerary teeth: report of a case with 6 supernumerary teeth

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    Taghibakhsh M

    2011-02-01

    Full Text Available "nBackground and Aims: Multiple supernumerary teeth are rare and often found in association with syndromes such as Gardner, Cleidocranial dysplasia and cleft lip and palate, with a much less chance for isolated"nnon-syndromic cases. The aim of this study was to report a case with 6 supernumerary teeth without syndromic association."nCase Report: The patient was a 33 year-old female, referred to oral diseases and diagnosis department with chief complaint of sensitivity to cold and hot food in right upper premolar region. Oral examination revealed 5 erupted lingually supernumerary teeth (four in mandibular and one in maxillary premolar region, respectively. Further panoramic radiography clarified an extra impacted tooth in the palatal region of left premolar maxillary area. All extra teeth had been appeared since the age of 17 during one year, as the patient claimed. Medical history and thorough clinical and paraclinical examinations were not significant except for the hypothyroidism, since 5 years ago. No other family member noticed to be the case. Based on our findings, a diagnosis of non-syndromic multiple supernumerary teeth was established."nConclusion: A thorough examination of each patient presented with supernumerary teeth, including panoramic and intraoral radiographic images may provide valuable information regarding accompanying syndromes and unerupted teeth. Early diagnosis is an essential step for orthodontic or surgical decisions making, preventing or avoiding worsening complications such as malocclusion, adjacent normal teeth delayed eruption or rotation, diasthema, cystic lesions and resorption of contiguous teeth.

  6. RUNX2 Mediates Plasmacytoid Dendritic Cell Egress from the Bone Marrow and Controls Viral Immunity.

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    Chopin, Michaël; Preston, Simon P; Lun, Aaron T L; Tellier, Julie; Smyth, Gordon K; Pellegrini, Marc; Belz, Gabrielle T; Corcoran, Lynn M; Visvader, Jane E; Wu, Li; Nutt, Stephen L

    2016-04-13

    Plasmacytoid dendritic cells (pDCs) represent a unique immune cell type that responds to viral nucleic acids through the rapid production of type I interferons. Within the hematopoietic system, the transcription factor RUNX2 is exclusively expressed in pDCs and is required for their peripheral homeostasis. Here, we show that RUNX2 plays an essential role in promoting pDC localization and function. RUNX2 is required for the appropriate expression of the integrin-mediated adhesion machinery, as well as for the down-modulation of the chemokine receptor CXCR4, which allows pDC egress into the circulation. RUNX2 also facilitates the robust response to viral infection through the control of IRF7, the major regulator of type I interferon production. Mice lacking one copy of Runx2 have reduced numbers of peripheral pDCs and IFN-α expression, which might contribute to the reported difficulties of individuals with cleidocranial dysplasia, who are haploinsufficient for RUNX2, to clear viral infections.

  7. RUNX2 Mediates Plasmacytoid Dendritic Cell Egress from the Bone Marrow and Controls Viral Immunity

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    Michaël Chopin

    2016-04-01

    Full Text Available Plasmacytoid dendritic cells (pDCs represent a unique immune cell type that responds to viral nucleic acids through the rapid production of type I interferons. Within the hematopoietic system, the transcription factor RUNX2 is exclusively expressed in pDCs and is required for their peripheral homeostasis. Here, we show that RUNX2 plays an essential role in promoting pDC localization and function. RUNX2 is required for the appropriate expression of the integrin-mediated adhesion machinery, as well as for the down-modulation of the chemokine receptor CXCR4, which allows pDC egress into the circulation. RUNX2 also facilitates the robust response to viral infection through the control of IRF7, the major regulator of type I interferon production. Mice lacking one copy of Runx2 have reduced numbers of peripheral pDCs and IFN-α expression, which might contribute to the reported difficulties of individuals with cleidocranial dysplasia, who are haploinsufficient for RUNX2, to clear viral infections.

  8. Low-dose computed tomography to diagnose fetal bone dysplasias.

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    Montoya Filardi, A; Guasp Vizcaíno, M; Gómez Fernández-Montes, J; Llorens Salvador, R

    We present a case of cleidocranial dysplasia diagnosed by low-dose fetal computed tomography (CT) in the 25th week of gestation. Severe bone dysplasia was suspected because of the fetus' low percentile in long bones length and the appearance of craniosynostosis on sonography. CT found no abnormalities incompatible with life. The effective dose was 5 mSv, within the recommended range for this type of examination. Low-dose fetal CT is a new technique that makes precision study of the bony structures possible from the second trimester of pregnancy. In Spain, abortion is legal even after the 22nd week of gestation in cases of severe fetal malformations. Therefore, in cases in which severe bone dysplasia is suspected, radiologists must know the strategies for reducing the dose of radiation while maintaining sufficient diagnostic quality, and they must also know which bony structures to evaluate. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.

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    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.

  10. FREQUENCY AND CHARACTERISTICS OF SUPERNUMERARY TEETH IN BRAZILIAN CHILDREN: CONSEQUENCES AND PROPOSED TREATMENTS FREQÜÊNCIA E CARACTERÍSTICAS DOS DENTES SUPRANUMERÁRIOS EM CRIANÇAS BRASILEIRAS: CONSEQÜÊNCIAS E TRATAMENTOS PROPOSTOS

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    Laura Guimarães PRIMO

    1997-10-01

    Full Text Available The study had the objective of identifying the frequency of supernumerary teeth on patients attended at the Pediatric Dentistry Clinic at the School of Dentistry of the Universidade Federal do Rio de Janeiro (FO-UFRJ, from 1981 to 1990, relating the frequency to the sex and dentition of the patients. Some characteristics relating to and consequential upon the pathology, as well as the proposed treatments, are also part of this work. To achieve the proposed objectives, 1,907 files of patients with full mouth radiographs were examined. Children who had disturbances such as cleft lip or palate, cleidocranial dysostosis or Gardner's Syndrome were excluded from the study. The age of the patients who comprised the sample varied from 2 to 14Este estudo teve como objetivo identificar a freqüência de dentes supranumerários em pacientes atendidos na Clínica de Odontopediatria da Faculdade de Odontologia da Universidade Federal do Rio de Janeiro (FO-UFRJ, entre 1981 e 1990, relacionando-a com o sexo e a dentição dos pacientes. As conseqüências da presença dessa patologia, bem como os tratamentos propostos, também fizeram parte deste trabalho. A fim de atingir os objetivos propostos, 1907 fichas de pacientes com radiografias de boca total foram examinadas. As crianças que apresentavam distúrbios, tais como fenda labial ou palatina, disostose cleidocraniana ou Síndrome de Gardner, foram excluídas do estudo. A idade dos pacientes que compuseram a amostra variou de 2 a 14 anos

  11. Disostosis cleidocraneal: Revisión bibliográfica a propósito de un caso clínico.

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    Bernardita Toro

    2012-07-01

    Full Text Available RESUMEN La Disostosis Cleidocraneal (CCD es un raro trastorno congénito del esqueleto, asociado a hipoplasia o aplasia clavicular, retardo en el cierre de las fontanelas craneales, con tipo braquicéfalos, retraso de la exfoliación de la dentición temporal, erupción retardada de dientes permanentes, presencia de varios supernumerarios y alteraciones morfológicas del maxilar y mandíbula. El trastorno se hereda como una condición autosómica dominante y en el 40% de los casos de la CCD aparece espontáneamente sin una causa genética aparente. El diagnóstico precoz es muy importante para dar a los pacientes las mejores opciones de tratamiento. En este trabajo, se revisó la literatura sobre esta enfermedad, su etiología, diagnóstico precoz, características generales y dentales. Se presenta un paciente con esta condición. Abstract: Cleidocranial dysostosis (CCD is a rare congenital skeletal disorder associated to clavicular hypoplasia or aplasia, delayed closure of fontanelles head with brachycephalic type, delayed exfoliation of primary teeth, delayed eruption of permanent teeth, presence of several supernumeraries and morphological changes on the maxilla and mandible. This disorder is inherited as an autosomal dominant condition and 40% of the cases appear spontaneously without apparent genetic cause. Early diagnosis is very important to give patients the best treatment options. In this article, literature regarding CCD, its etiology, early diagnosis, and general and dental features. A patient with this condition is presented.

  12. Prevalence of dominant mutations in Spain: effect of changes in maternal age distribution.

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    Martínez-Frías, M L; Herranz, I; Salvador, J; Prieto, L; Ramos-Arroyo, M A; Rodríguez-Pinilla, E; Cordero, J F

    1988-12-01

    We studied the birth prevalence of autosomal dominant mutations in Spain and estimated how a decrease in maternal age distribution may lead to reduction in dominant mutations. The data were collected by the Estudio Colaborativo Español de Malformaciones Congénitas from April, 1976, to December, 1985. Among 553,270 liveborn infants monitored during the period, 66 infants with autosomal dominant conditions were identified. These included Apert, Crouzon, Hay-Wells, Treacher-Collins, Robinow, Stickler, Adams-Oliver, and the blepharophimosis syndromes, achondroplasia, cleidocranial dysostosis, and thanatophoric dysplasia. The overall rate of autosomal dominant conditions was 1.2 per 10,000 liveborn infants. Thirteen (20%) had an affected relative, and 52 (79%) had a negative family history. One case was excluded because of insufficient family data. The rate of autosomal dominant mutations was 0.9 per 10,000 liveborn infants, or 47 per 1 million gametes. A reduction in the maternal age distribution of mothers age 35 years and older from the current 10.8% to 4.9%, as in Atlanta, Georgia, would reduce the rate of Down syndrome in Spain by 33% and through a change in parternal age distribution may lead to a reduction in dominant mutations of about 9.6%. This suggests that a public health campaign to reduce older maternal age distribution in Spain may also lead to a reduction in dominant mutations and emphasizes the potential that a direct campaign for fathers to complete their families before age 35 years may have a small, but measurable, effect in the primary prevention of dominant mutations.

  13. Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation.

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    Nigel A Morrison

    Full Text Available RUNX2 is an essential transcription factor required for skeletal development and cartilage formation. Haploinsufficiency of RUNX2 leads to cleidocranial displaysia (CCD a skeletal disorder characterised by gross dysgenesis of bones particularly those derived from intramembranous bone formation. A notable feature of the RUNX2 protein is the polyglutamine and polyalanine (23Q/17A domain coded by a repeat sequence. Since none of the known mutations causing CCD characterised to date map in the glutamine repeat region, we hypothesised that Q-repeat mutations may be related to a more subtle bone phenotype. We screened subjects derived from four normal populations for Q-repeat variants. A total of 22 subjects were identified who were heterozygous for a wild type allele and a Q-repeat variant allele: (15Q, 16Q, 18Q and 30Q. Although not every subject had data for all measures, Q-repeat variants had a significant deficit in BMD with an average decrease of 0.7SD measured over 12 BMD-related parameters (p = 0.005. Femoral neck BMD was measured in all subjects (-0.6SD, p = 0.0007. The transactivation function of RUNX2 was determined for 16Q and 30Q alleles using a reporter gene assay. 16Q and 30Q alleles displayed significantly lower transactivation function compared to wild type (23Q. Our analysis has identified novel Q-repeat mutations that occur at a collective frequency of about 0.4%. These mutations significantly alter BMD and display impaired transactivation function, introducing a new class of functionally relevant RUNX2 mutants.

  14. Runx2-I isoform contributes to fetal bone formation even in the absence of specific N-terminal amino acids.

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    Hideaki Okura

    Full Text Available The Runt-related transcription factor 2 (Runx2 gene encodes the transcription factor Runx2, which is the master regulator of osteoblast development; insufficiency of this protein causes disorders of bone development such as cleidocranial dysplasia. Runx2 has two isoforms, Runx2-II and Runx2-I, and production of each isoform is controlled by a unique promoter: a distal promoter (P1 and a proximal promoter (P2, respectively. Although several studies have focused on differences and similarities between the two Runx2 isoforms, their individual roles in bone formation have not yet been determined conclusively, partly because a Runx2-I-targeted mouse model is not available. In this study, we established a novel Runx2-manipulated mouse model in which the first ATG of Runx2-I was replaced with TGA (a stop codon, and a neomycin-resistant gene (neo cassette was inserted at the first intron of Runx2-I. Homozygous Runx2-Ineo/neo mice showed severely reduced expression of Runx2-I, whereas Runx2-II expression was largely retained. Runx2-Ineo/neo mice showed neonatal lethality, and in these mice, intramembranous ossification was more severely defective than endochondral ossification, presumably because of the greater involvement of Runx2-I, compared with that of Runx2-II in intramembranous ossification. Interestingly, the depletion of neo rescued the above-described phenotypes, indicating that the isoform-specific N-terminal region of Runx2-I is not functionally essential for bone development. Taken together, our results provide a novel clue leading to a better understanding of the roles of Runx2 isoforms in osteoblast development.

  15. Association of polyalanine and polyglutamine coiled coils mediates expansion disease-related protein aggregation and dysfunction.

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    Pelassa, Ilaria; Corà, Davide; Cesano, Federico; Monje, Francisco J; Montarolo, Pier Giorgio; Fiumara, Ferdinando

    2014-07-01

    The expansion of homopolymeric glutamine (polyQ) or alanine (polyA) repeats in certain proteins owing to genetic mutations induces protein aggregation and toxicity, causing at least 18 human diseases. PolyQ and polyA repeats can also associate in the same proteins, but the general extent of their association in proteomes is unknown. Furthermore, the structural mechanisms by which their expansion causes disease are not well understood, and these repeats are generally thought to misfold upon expansion into aggregation-prone β-sheet structures like amyloids. However, recent evidence indicates a critical role for coiled-coil (CC) structures in triggering aggregation and toxicity of polyQ-expanded proteins, raising the possibility that polyA repeats may as well form these structures, by themselves or in association with polyQ. We found through bioinformatics screenings that polyA, polyQ and polyQA repeats have a phylogenetically graded association in human and non-human proteomes and associate/overlap with CC domains. Circular dichroism and cross-linking experiments revealed that polyA repeats can form--alone or with polyQ and polyQA--CC structures that increase in stability with polyA length, forming higher-order multimers and polymers in vitro. Using structure-guided mutagenesis, we studied the relevance of polyA CCs to the in vivo aggregation and toxicity of RUNX2--a polyQ/polyA protein associated with cleidocranial dysplasia upon polyA expansion--and found that the stability of its polyQ/polyA CC controls its aggregation, localization and toxicity. These findings indicate that, like polyQ, polyA repeats form CC structures that can trigger protein aggregation and toxicity upon expansion in human genetic diseases. © The Author 2014. Published by Oxford University Press.

  16. Dental eruption in afrotherian mammals

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    Lehmann Thomas

    2008-03-01

    Full Text Available Abstract Background Afrotheria comprises a newly recognized clade of mammals with strong molecular evidence for its monophyly. In contrast, morphological data uniting its diverse constituents, including elephants, sea cows, hyraxes, aardvarks, sengis, tenrecs and golden moles, have been difficult to identify. Here, we suggest relatively late eruption of the permanent dentition as a shared characteristic of afrotherian mammals. This characteristic and other features (such as vertebral anomalies and testicondy recall the phenotype of a human genetic pathology (cleidocranial dysplasia, correlations with which have not been explored previously in the context of character evolution within the recently established phylogeny of living mammalian clades. Results Although data on the absolute timing of eruption in sengis, golden moles and tenrecs are still unknown, craniometric comparisons for ontogenetic series of these taxa show that considerable skull growth takes place prior to the complete eruption of the permanent cheek teeth. Specimens showing less than half (sengis, golden moles or two-thirds (tenrecs, hyraxes of their permanent cheek teeth reach or exceed the median jaw length of conspecifics with a complete dentition. With few exceptions, afrotherians are closer to median adult jaw length with fewer erupted, permanent cheek teeth than comparable stages of non-afrotherians. Manatees (but not dugongs, elephants and hyraxes with known age data show eruption of permanent teeth late in ontogeny relative to other mammals. While the occurrence of delayed eruption, vertebral anomalies and other potential afrotherian synapomorphies resemble some symptoms of a human genetic pathology, these characteristics do not appear to covary significantly among mammalian clades. Conclusion Morphological characteristics shared by such physically disparate animals such as elephants and golden moles are not easy to recognize, but are now known to include late eruption

  17. Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia

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    Lee, Yi-Ching; Song, I-Wen; Pai, Ya-Ju; Chen, Sheng-De; Chen, Yuan-Tsong

    2017-01-01

    Achondroplasia (ACH), the most common genetic dwarfism in human, is caused by a gain-of function mutation in fibroblast growth factor receptor 3 (FGFR3). Currently, there is no effective treatment for ACH. The development of an appropriate human-relevant model is important for testing potential therapeutic interventions before human clinical trials. Here, we have generated an ACH mouse model in which the endogenous mouse Fgfr3 gene was replaced with human FGFR3G380R (FGFR3ACH) cDNA, the most common mutation in human ACH. Heterozygous (FGFR3ACH/+) and homozygous (FGFR3ACH/ACH) mice expressing human FGFR3G380R recapitulate the phenotypes observed in ACH patients, including growth retardation, disproportionate shortening of the limbs, round head, mid-face hypoplasia at birth, and kyphosis progression during postnatal development. We also observed premature fusion of the cranial sutures and low bone density in newborn FGFR3G380R mice. The severity of the disease phenotypes corresponds to the copy number of activated FGFR3G380R, and the phenotypes become more pronounced during postnatal skeletal development. This mouse model offers a tool for assessing potential therapeutic approaches for skeletal dysplasias related to over-activation of human FGFR3, and for further studies of the underlying molecular mechanisms. PMID:28230213

  18. Patterns of bone diseases in transfusion-dependent homozygous thalassaemia major: predominance of osteoporosis and desferrioxamine-induced bone dysplasia

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    Chan, Yu-Leung; Pang, Lai-Man [Department of Diagnostic Radiology and Organ Imaging, Prince of Wales Hospital, Shatin (Hong Kong); Chik, Ki-Wai; Li, Chi-Kong [Department of Paediatrics, Prince of Wales Hospital, Chinese University of Hong Kong (Hong Kong); Cheng, Jack C.Y. [Department Orthopaedics and Traumatology, Prince of Wales Hospital, Chinese University of Hong Kong (Hong Kong)

    2002-07-01

    Objective: To study the radiographic skeletal changes in transfusion-dependent homozygous {beta}-thalassaemia. Materials and methods: This was a retrospective review of radiographs of 41 homozygous {beta}-thalassaemic patients over 3 years. These included 55 left hand radiographs for bone age, 37 chest radiographs, 7 scanograms of lower limbs, 8 knee radiographs and 3 skull radiographs. The radiographs were evaluated for the skeletal changes owing to medullary expansion, as well as for the skeletal dysplasia related to desferrioxamine therapy. The combined cortical width of the mid shaft of the second metacarpal was measured on left hand radiographs to assess osteoporosis. Results: Sixteen patients had radiographic evidence of desferrioxamine-induced bone dysplasia. These included metaphyseal sclerosis in long bone (n=16), irregular sclerosis at the costochondral junction (n=3) and platyspondyly (n= 1). Two patients had radiographic evidence of medullary expansion with widening of medulla and marked thinning of cortex in the tubular bones. Osteoporosis, as indicated by thinning of metacarpal cortex, was noted in 17 patients (8 with and 9 without desferrioxamine-induced bone dysplasia). Conclusions: With provision of the modern regime of regular transfusion and desferrioxamine chelation, desferrioxamine-induced bone dysplasia was a much more frequently detected radiographic abnormality in {beta}-thalassaemia major than radiographic features owing to medullary expansion. Osteoporosis, as indicated by thinned metacarpal cortices, remained a frequent feature irrespective of the status of the skeletal dysplasia. (orig.)

  19. Functional status and amount of hip displacement independently affect acetabular dysplasia in cerebral palsy.

    Science.gov (United States)

    Chung, Myung Ki; Zulkarnain, Arif; Lee, Jae Bong; Cho, Byung Chae; Chung, Chin Youb; Lee, Kyoung Min; Sung, Ki Hyuk; Park, Moon Seok

    2017-07-01

    Acetabular dysplasia is the one of main causes of hip displacement in patients with cerebral palsy (CP). Although several studies have shown a relationship between hip displacement and acetabular dysplasia, relatively few have evaluated the association between quantitative acetabular dysplasia and related factors, such as Gross Motor Function Classification System (GMFCS) level. We performed a morphometric analysis of the acetabulum in patients with CP using multiplanar reformation of computed tomography data. The three directional acetabular indices (anterosuperior, superolateral, and posterosuperior) were used to evaluate acetabular dysplasia. Consequently, linear mixed-effects models were used to adjust for related factors such as age, sex, GMFCS level, and migration percentage. A total of 176 patients (mean age 9y 5mo, range 2y 4mo-19y 6mo; 104 males, 72 females) with CP and 55 typically developing individuals (mean age 13y 6mo, range 2y 5mo-19y 10mo; 37 males, 18 females) in a comparison group were enrolled in this study. Statistical modelling showed that all three directional acetabular indices independently increased with GMFCS level (pdysplasia was independently affected by both the amount of hip displacement and the GMFCS level. Thus, physicians should consider not only the migration percentage but also three-dimensional evaluation in patients at high GMFCS levels. © 2017 Mac Keith Press.

  20. Pregnancy and menopause in patients with systemic lupus erythematosus and/or antiphospholipid syndrome. Practical messages from the EULAR guidelines.

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    Vagelli, Roberta; Tani, Chiara; Mosca, Marta

    2017-01-25

    Over the last few decades, reproductive medicine has observed an improvement in the management and outcome of pregnancy in connective tissue diseases, such as systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS). However, pregnancy and related issues remain a challenge in these patients. In routine clinical practice, health professionals dealing with SLE and APS need to consider the numerous aspects of the reproductive life of their patients, such as pregnancy, family planning, fertility, contraception, cancer surveillance, and menopause. The new European League Against Rheumatism recommendations for women's health and family planning reflect the need for a novel approach to communication in the patient-physician relationship. Preconception counseling is essential to ensure optimal pregnancy outcomes through a careful risk stratification involving disease activity, organ involvement, autoantibody profile, use of drugs, and previous pregnancy outcomes, as well as to ensure better preventive and therapeutic strategies to limit complications. In patients with stable/inactive disease and low risk of thrombosis, adequate hormonal contraception and menopausal replacement therapy should be recommended. Assisted reproductive techniques can be safely used in these patients, but anticoagulation or low-dose aspirin (or both) should be added in those with positive antiphospholipid antibody titers. All menstruating women should be counseled on the possibility to preserve fertility with gonadotropin- ‑releasing hormone analogues if receiving alkylating agents. Strict clinical, serological, laboratory, and multidisciplinary monitoring during pregnancy is mandatory to early recognize and effectively treat disease flares or obstetric complications. Doppler ultrasonography and fetal biometry should be regularly performed, especially in the second and third trimesters. Physicians should recommend screening for cervical dysplasia related to human papillomavirus

  1. Surgical management of multiple supernumerary teeth and an impacted maxillary permanent central incisor.

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    Rallan, Mandeep; Rallan, Neelakshi Singh; Goswami, Mousumi; Rawat, Kamini

    2013-05-22

    Hyperdontia is the condition of having supernumerary teeth, or teeth which appear in addition to the regular number of teeth. It is a developmental anomaly and has been argued to arise from multiple aetiologies. The most common site is the maxillary incisor region; but the prevalence of more than three teeth supernumerary tooth is less than 1%. A case of 13 year male patient is reported with a multiple impacted supernumerary tooth in maxillary anterior region hindering the eruption of right permanent central incisor. The supernumerary tooth was treated via surgical approach followed by an interim prosthesis for permanent central incisor which later on erupted in due course of time. Background Supernumerary teeth may be defined as any teeth or tooth substance in excess of the usual configuration of 20 deciduous and 32 permanent teeth. The presence of supernumerary teeth in the premaxillary region often poses unique diagnostic and managerial concerns for the practitioner. Rarely is the surplus number compensated by an absence or deficiency of other teeth. Therefore, the dysfunctional nature of supernumerary teeth and their ability to create a variety of pathological disturbances in the normal eruption and position of adjacent teeth warrants their early detection and prudent management. Approximately 76-86% of cases represent single-tooth hyperdontia, with two supernumerary teeth noted in 12-23% and three or more extra teeth noted in less than 1% of cases. Multiple supernumerary teeth are also associated with many syndromes like cleidocranial dysplasia and Gardner’s syndrome etc. However, it is rare to find multiple supernumeraries in individuals with no other associated disease or syndrome. In such cases, the maxillary anterior region is the common site of occurrence. The exact aetiology is not clearly understood. The supernumerary teeth result from any disturbance in the initiation and proliferation stages of odontogenesis. There are several theories regarding the