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
Extractions: 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
Cleidocranial Dysplasia Next Last Index Text. Slide 1 of 19. http://www.dental.mu.edu/oralpath/spresent/cleidocranial/sld001.htm
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
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
Extractions: 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 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...
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
Extractions: 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
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
Extractions: 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. 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. Children's Craniofacial Association
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
Extractions: Email: nhlbiinfo@rover.nhlbi.nih.gov 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.
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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Extractions: 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?
Extractions: Scheuthauer-Marie-Sainton syndrome 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:
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
Cleidocranial Dysplasia cleidocranial dysplasia. Examinations Photographs Movies Links Home Search noJava Home. http://medgen.genetics.utah.edu/photographs/pages/cleidocranial_dysplasia.htm
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
Extractions: 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. 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
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
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
Extractions: 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: References:
Extractions: 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, doi: 10.1259/dmfr/63490079 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.
Extractions: 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. 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
Extractions: 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
