21. Cleidocranial Dysplasia cleidocranial dysplasia. A rare condition inherited as an autosomal dominant andcharacterized by partial or complete absence of the clavicles, http://www.dental.mu.edu/oralpath/lesions/cleidocraniadys/cleidocraniadys.htm

Cleidocranial Dysplasia A rare condition inherited as an autosomal dominant and characterized by partial or complete absence of the clavicles, defective ossification of the skull, and faulty occlusion due to missing, misplaced, or supernumerary teeth. Clinical Features: aplasia or hypoplasia of the clavicles craniofacial malformations presence of numerous supernumerary and unerupted teeth nose is flat, wide and lacks a bridge primary dentention may be retained into adulthood Radiographic Features: numerouos fully formed teeth embedded within the mandible and maxilla supernumerary teeth palate is usualy highly vaulted and narrow skull exhibits patent fontanels and wormian bones, broad and anomalous cranial sutures, and underdeveloped paranasal sinuses Etiology: genetic Treatment: no known treatment counseling regarding its hereditary tendency orthodontic procedures may be helpful in some cases Prognosis: good Webmaster © 2001 - Marquette University School of Dentistry - P.O. Box 1881 - Milwaukee, WI 53201-1881

22. Cleidocranial Dysplasia Next Last Index Text. Slide 1 of 19. http://www.dental.mu.edu/oralpath/spresent/cleidocranial/sld001.htm

23. NORD - National Organization For Rare Disorders, Inc. cleidocranial dysplasia is a rare skeletal dysplasia characterized by short cleidocranial dysplasia is inherited as an autosomal dominant genetic trait. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cleidocranial

24. Cleidocranial Dysplasia cleidocranial dysplasia Home Welcome. The recent problems we ve been experiencing cleidocranial dysplasia - Find information about this rare genetic http://www.health-nexus.com/cleidocranial_dysplasia.htm

The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Cleidocranial Dysplasia cleidocranial dysplasia (CCD, CLCD) ...Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome cleidocranial dysplasia (CCD, CLCD) Synonyms Marie-Sainton syndrome Scheuthauer-Marie-Sainton syndrome... cleidocranial dysplais ... Welcome To Cleidocranial Dysplasia. CCD ... Cleidocranial Dysplasia Home Welcome. The recent problems we've been experiencing with the forms have been fixed. According to Mosby's Medical, Nursing, and Allied Health Dictionary (Fourth Edition), Cleidocranial Dysplasia... Cleidocranial Dysplasia Find information about this rare genetic disorder, chat and more topics for discussion. Virtual Children's Hospital: Paediapaedia: Cleidocranial Dysplasia Paediapaedia: Musculoskeletal Diseases Cleidocranial Dysplasia Michael P. D'Alessandro, M.D. Peer Review Status: Internally Peer Reviewed Clinical Presentation: See delayed closure of sutures and the...

25. UW Radiology Main Online Teaching File: Case 35 Answers cleidocranial dysplasia (aka cleidocranial dysostosis) cleidocranial dysplasiais an autosomal dominant disorder whose very name tells us a lot about it http://www.rad.washington.edu/maintf/cases/unk35/answers.html

UW Radiology Main Online Teaching File UW Radiology Home Unknown Cases in Random Order Musculoskeletal Cases Only Breast Cases Only ... Search this site UW Radiology Main Online Teaching File: Case 35 Answers Cleidocranial dysplasia (a.k.a. cleidocranial dysostosis) The findings in this case include: a hypoplastic right clavicle (arrow in figure below) delayed ossification of the pubic bones (a midline abnormality) bilateral coxa vara with abnormal proximal femoral epiphyses The first two findings should give away the diagnosis in this case. If only the latter two findings had been present, one might also have included another rare dysplasia known as spondyloepiphyseal dysplasia. However, in this latter entity, the femoral ossification centers would have been delayed a bit more at this age. Cleidocranial dysplasia has also been known as cleidocranial dysostosis. However, cleidocranial dysplasia is a better term, as it emphasizes the systemic nature of this process. These patients have a normal life expectancy. Prominent complications of this syndrome include dental anomalies, hearing loss, scoliosis, and dislocations of the shoulder, radial head or hip. To learn more about a radiographic approach to skeletal dysplasias, click

26. Cleidocranial Dysplasia cleidocranial dysplasia is a rare skeletal dysplasia characterized by shortstature, distinctive facial features and narrow, sloping shoulders caused by http://www.bchealthguide.org/kbase/nord/nord961.htm

var hwPrint=1;var hwDocHWID="nord961";var hwDocTitle="Cleidocranial Dysplasia";var hwRank="1";var hwSectionHWID="nord961-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Cleidocranial Dysplasia Important It is possible that the main title of the report Cleidocranial Dysplasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cleidocranial Dysostosis Dysplasia, Cleidocranial Dysplasia, Osteodental Marie-Sainton Disease Disorder Subdivisions None General Discussion Cleidocranial dysplasia is a rare skeletal dysplasia characterized by short stature, distinctive facial features and narrow, sloping shoulders caused by defective or absent collarbones (clavicles). Major symptoms may include premature closing of the soft spot on the head (coronal), delayed closure of the space between the bones of the skull (fontanels), narrow and abnormally shaped pelvic and pubic bones and deformations in the chest (thoracic region). Delayed eruption of teeth, moderately short stature, a high arched palate, a wide pelvic joint, failure of the lower jaw joints to unite, and fingers that are irregular in length may also be present. Cleidocranial dysplasia is inherited as an autosomal dominant genetic trait. Resources Children's Craniofacial Association 13140 Coit Road Suite 307 Dallas, TX 75240

27. Yunis Varon Syndrome cleidocranial dysplasia w/ Micrognathia, Absent Thumbs, Distal Aphalangia or partial absence of the shoulder blades (cleidocranial dysplasia); http://www.bchealthguide.org/kbase/nord/nord1094.htm

var hwPrint=1;var hwDocHWID="nord1094";var hwDocTitle="Yunis Varon Syndrome";var hwRank="1";var hwSectionHWID="nord1094-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Yunis Varon Syndrome Important It is possible that the main title of the report Yunis Varon Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Disorder Subdivisions None General Discussion Resources National Craniofacial Foundation 3100 Carlisle Street Suite 215 Dallas, TX 75204 Tel: (800)535-3643 NIH/National Heart, Lung and Blood Institute Information Center P.O. Box 30105 Bethesda, MD 20824-0105 Tel: (301)592-8573 Fax: (301)251-1223 Email: nhlbiinfo@rover.nhlbi.nih.gov For a Complete Report The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians. It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

28. Cleidocranial Dysplasia,Cleidocranial Dysostosis,Dysplasia cleidocranial dysplasia,Cleidocranial Dysostosis,Dysplasia Cleidocranial,DysplasiaOsteodental,MarieSainton Disease. http://www.icomm.ca/geneinfo/cleidocran.htm

29. Blackwell Synergy - Cookie Absent Atypical expression of cleidocranial dysplasia clinical and Cleidocranialdysplasia (CCD; MIM 119600) is an autosomal dominant disease with complete http://www.blackwell-synergy.com/doi/abs/10.1034/j.1600-0544.2002.02206.x

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30. Cleidocranial Dysplasia: Definition And Much More From Answers.com cleidocranial dysplasia What is cleidocranial dysplasia? cleidocranial dysplasia (CCD)is a genetic (inherited) disorder of bone development which is. http://www.answers.com/topic/cleidocranial-dysplasia

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Diagnosis Medical Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Cleidocranial Dysplasia Diagnosis Cleidocranial Dysplasia What is cleidocranial dysplasia? Cleidocranial dysplasia (CCD) is a genetic (inherited) disorder of bone development which is characterized by: Absent or incompletely formed collar bones (the "cleido-" part refers to the clavicles, the collar bones). A person with this condition can bring his/her shoulders together or nearly so; and Typical cranial and facial abnormalities with square skull, late closure of the sutures of the skull, late closure of the fontanels (the soft spots), low nasal bridge, delayed eruption of the teeth, abnormal permanent teeth, etc. How does a person acquire CCD? The disorder is transmitted genetically in an autosomal dominant manner. This means that one parent with the condition has a 50:50 chance of passing CCD to each of their children. Boys and girls are equally affected. What is the molecular genetic basis for CCD?

31. Cleidocranial Dysplasia Information Diseases Database cleidocranial dysplasia,Dysostosis, cleidocranial,ScheuthauerMarie-Saintonsyndrome, Disease Database Information. http://www.diseasesdatabase.com/ddb30594.htm

Diseases Database Index Sponsors Contact ... Previous Page Cleidocranial dysplasia information Search 3 synonyms or equivalents were found. Cleidocranial dysplasia aka/or Dysostosis, cleidocranial aka/or Scheuthauer-Marie-Sainton syndrome may cause or feature (Follow link for list.) may be associated with (Follow link for list.) belong(s) to the category of (Follow link for list.) Cleidocranial dysplasia: Definition(s) via UMLS Code translations and terms via UMLS Cleidocranial dysplasia: specific web sites Send Cleidocranial dysplasia to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 01:01:57 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition!

32. Hill Health Topics A-Z - Cleidocranial Dysplasia cleidocranial dysplasia. National Organization for Rare Disorders. Important Itis possible that the main title of the report cleidocranial dysplasia is not http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord961&SE

33. Cleidocranial Dysplasia cleidocranial dysplasia. Examinations Photographs Movies Links Home Search noJava Home. http://medgen.genetics.utah.edu/photographs/pages/cleidocranial_dysplasia.htm

cleidocranial dysplasia Examinations Photographs Movies Links ... noJava Home

34. Ccd - Cleidocranial Dysplasia cleidocranial dysplasia (CCD) was thought to be caused by heterozygous mutationsin CBFA1. Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/147377.html

The gene was shown to be deleted in the Ccd mutation. Abstract-1051668 Haploinsufficiency of the gene is associated with cleidocranial dysplasia (CCD), the main phenotype of which is inadequate development of calvaria. Abstract-8791147 The three mammalian runx genes are oncogenes with essential functions in normal development: is required for hematopoiesis and is frequently mutated in human and murine leukemias; is required for bone development and is associated with human cleidocranial dysplasia and murine leukemias; and (the evolutionarily basal member of the mammalian family) regulates growth of the gut and functions as a tumor suppressor in the gastric epithelium (Westendorf and Hiebert, 1999; Li et al., 2002). Abstract-9614909 Cleidocranial dysplasia (CCD) was thought to be caused by heterozygous mutations in Abstract-10183922 Mutations involving the transcription factor cause cleidocranial dysplasia (CCD) in man. Abstract-1966032 Heterogeneous mutations of gene result in cleidocranial dysplasia , an autosomal dominant syndrome, characterized by abnormal skeletal genesis and dental disorders.

35. Cleidocranial Dysplasia. Gulati S, Kabra M J Postgrad Med J Postgrad Med, Online version this peerreviewed periodical, a publication ofthe Staff Society of Seth GS Medical College and KEM Hospital, India, http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2001;volume=47;issue=3

36. Cleidocranial Dysplasia.,Gulati S, Kabra M: J Postgrad Med Indexed peerreviewed biomedical periodical of Staff Society of Seth GS MedicalCollege and KEM Hospital, India, with free access to full-text since 1990. http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2001;volume=47;issue=3

37. Virtual Children's Hospital: Paediapaedia: Cleidocranial Dysplasia cleidocranial dysplasia. Michael P. D Alessandro, MD Peer Review Status InternallyPeer Reviewed. Clinical Presentation See delayed closure of sutures and http://www.vh.org/pediatric/provider/radiology/PAP/MSDiseases/CleidocranDys.html

Paediapaedia: Musculoskeletal Diseases Cleidocranial Dysplasia Michael P. D'Alessandro, M.D. Peer Review Status: Internally Peer Reviewed Clinical Presentation: See delayed closure of sutures and the anterior fontanelle, small face, drooping shoulders, increased joint mobility, abnormal gait, and short digits. Etiology/Pathophysiology: Heritable connective tissue disorder due to abnormal ossification of membranous and chondral bones. Pathology: Not applicable Imaging Findings: Radiographic signs include: Skull has wormian bones and delayed or absent closure of the fontanelles Clavicles - total or partial absence of one or both clavicles Pelvis - absent or dysplastic pubic bones, femoral neck dysplasia, wide SI joints, iliac hypoplasia Hands - long 2nd metacarpal and metatarsal, short distal phalanges DDX: Not applicable References: See References Chapter. Title Page Virtual Children's Hospital Home Virtual Hospital Home Site Map ... University of Iowa http://www.vh.org/pediatric/provider/radiology/PAP/MSDiseases/CleidocranDys.html

38. Dentomaxillofacial Variability Of Cleidocranial Dysplasia: Clinicoradiological P Dentomaxillofacial variability of cleidocranial dysplasia clinicoradiologicalpresentation and systematic review. I Golan*,1 , U Baumert1 , BP Hrala2 and D http://dmfr.birjournals.org/cgi/content/abstract/32/6/347

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS This Article Figures Only Full Text Full Text (PDF) ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Golan, I Dentomaxillofacial Radiology (2003) 32, British Institute of Radiology doi: 10.1259/dmfr/63490079 SYSTEMATIC REVIEW Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systematic review I Golan U Baumert BP Hrala and Department of Orthodontics, Division of Craniofacial Genetics, University of Regensburg, Germany; Department for Oral and Maxillofacial Surgery, University of Regensburg, Germany *Correspondence to: Ilan Golan, University of Regensburg, Department of Orthodontics, Division of Craniofacial Genetics, 93053 Regensburg, Germany; Email: Received 21 April 2003; accepted 23 October 2003 Objectives: The aim of this study was to determine the clinical and radiological presentation of cleidocranial dysplasia (CCD) in our patient group and to compare them with other reported cases by a systematic review (SR) of the literature.

39. Cleidocranial Dysplasia: Radiological Appearances On Dental Panoramic Radiograph cleidocranial dysplasia radiological appearances on dental panoramic radiography.CM McNamara, BC O Riordan, M. Blake and JR Sandy http://dmfr.birjournals.org/cgi/content/abstract/28/2/89

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by McNamara, C. M. Articles by Sandy, J. R. ARTICLES Cleidocranial dysplasia: radiological appearances on dental panoramic radiography C. M. McNamara, B. C. O'Riordan, M. Blake and J. R. Sandy Department of Dental Radiology, King's College, London, UK. OBJECTIVE: To report the effectiveness of dental panoramic radiography in identifying features pathognomonic for cleidocranial dysplasia. METHODS: Panoramic radiographs of nine male Caucasian patients with cleidocranial dysplasia are analysed. RESULTS: In addition to the established dental complications of failure of eruption of the permanent dentition and multiple supernumerary teeth, morphological abnormalities of the maxilla and mandible, particularly in the ascending ramus and coronoid process were

40. Osteogenesis Through CBFA-1; Cleidocranial Dysplasia Therefore, it appears that cleidocranial dysplasia is caused by heterozygosityof the CBFA1 gene (Mundlos et al., 1997). http://zygote.swarthmore.edu/mesend6.html

TURNING MESENCHYME INTO BONE While the MyoD family of transcription factors is competent to transform primitive mesenchyme cells (or just about any other cell) into muscle-forming myoblasts, the CBFA-1 transcription factor appears to be able to transform cells into osteoblasts, the cells that make the bones. Four papers recently published in Cell converged on the equation that activation of the CBFA-1 gene is the sine qua non of bone development. One laboratory (Ducy et al., 1997) found CBFA-1 by searching for an activator of the bone-specific protein, osteocalcin. This laboratory had identified a portion of the mouse osteocalcin promoter that was critical in activating the osteocalcin gene in osteoblasts (Ducy and Karsenty, 1995), and they sought the gene that encoded the protein that bound to this region of the promoter. The factor in the osteoblast nuclei that bound to this region was characterized, and a cDNA encoding this protein was cloned. Ducy and her colleagues found that the message for this factor, CBFA-1 is severely restricted to the mesenchymal condensations that form bone and is limited to the osteoblast lineage. The protein appears to activate not only the osteocalcin gene but also other genes that are expressed in developing bone. Moreover, if the CBFA-1 gene is experimentally expressed in other types of cells, these cells begin to express the bone-specific proteins. Confirmation and extension of this conclusion was obtained from gene targeting experiments wherein the mouse

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