41. Cleidocranial Dysostosis A Case Report Cleber Silva* ; Steven De Nguyen T, Turcotte JY (1994) cleidocranial dysplasia review of JensenBL (1994) cleidocranial dysplasia craniofacial morphology in adult patients. http://www.cumc.columbia.edu/news/dental/cdr97/silva.html

Cleidocranial Dysostosis: A Case Report Cleber Silva* ; Steven DiRienzo, BS**; Neill Serman, DDS*** ABSTRACT The findings of cleidocranial dysostosis are reviewed. A case is presented where the clinical appearance of the patient should have made the clinician immediately aware of the possibility of the condition before performing an intraoral or radiographic examination. (Col Dent Rev 2:26, 1997) INTRODUCTION Cleidocranial dysostosis, CCD, is a rare developmental defect of autosomal dominant inheritance1,2, which has been mapped to a microdeletion of chromosome band 6p214, t(6;18) (p12;q24) translocation12 and pericentric inversion of chromosome 6.13 It is also known as Marie and Sainton disease, mutational dysostosis, craniocleido dysostosis and cleidocranial dysplasia.11 It presents with skeletal defects of several bones, the most striking of which is partial or complete absence of clavicles (Figure 1)1,3 and late closure of the fontanelles (which is also found in Basal Cell Nevus Syndrome and Crouzon Syndrome) resulting in frontal bossing. This condition is of clinical significance to the dentist due to the involvement of facial bones, altered eruption patterns, and presence of multiple supernumerary teeth.11 CASE REPORT A case is presented to show the importance of thorough observation of each patient's general appearance. A young mother in her late twenties (Figure 2) brought her asymptomatic, 12 year old daughter (Figure 3) into the dental clinic "for dental treatment". On intraoral examination, it was noted that the child had more primary teeth present than one would expect at this age, but not much thought was given to this finding at the initial examination (Figure 4). It was decided that panoramic and bitewing radiographs were required to evaluate the child's dentition.

42. CLEIDOCRANIAL DYSPLASIA cleidocranial dysplasia is an autosomal dominant disorder whose very name tells cleidocranial dysplasia has also been known as cleidocranial dysostosis. http://www.mypacs.net/cgi-bin/repos/mpv3_repo/wrm/repo-view.pl?cx_subject=834843

43. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Rare_Disorders/Cle cleidocranial dysplasia Information about this rare genetic disorder, A Natural History of cleidocranial dysplasia - An article from Baylor College of http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Rare_Disord

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Rare Disorders : Cleidocranial Dysplasia Subtopics See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Musculoskeletal Disorders Search Google: Cleidocranial Dysplasia News Books Links ... Dye Imaging ID's Oral Lesions Likely To Become Cancer (September 1, 2005) full story Study Casts Doubt On Lung Treatment For Preterm Infants (July 11, 2005) full story Researchers Trace Evolution To Relatively Simple Genetic Changes (May 31, 2005) full story A Shallow Hip Socket Predicts Osteoarthritis Of The Hip (March 21, 2005) full story Mechanical Tension Helps Shape Lung Development (March 5, 2005) full story Dog Genome Yields Information That May Benefit Human Health (May 21, 2004) full story Possible Link Discovered Between Gene Responsible For Blood Vessel Development And ACD In Newborns (March 12, 2004) full story Activation Of Receptor Ups Development Of Precancerous Intestinal Polyps (February 2, 2004) full story [ More news about Cleidocranial Dysplasia Error: We did not find any matches for your request.

44. Ortho Hyperguide. Login Page cleidocranial dysplasia. Paul D. Sponseller, MD Professor and Head of the Divisionof Pediatric Orthopedics The Johns Hopkins Hospital Baltimore, Maryland http://www.ortho.hyperguides.com/Tutorials/pediatric_ort/cleidocranial_dysplasia

Welcome to the ORTHOPEDICS Hyperguide TM The ORTHOPEDICS Hyperguide TM is a state-of-the-art online educational program, designed for health care professionals worldwide. It features tutorials online lectures , and test questions in the following areas: Adult Orthopedics, Basic Science, Foot and Ankle, Hand, Orthobiologics and Pharmacologics, Pediatric Orthopedics, Spine, Sports Medicine, Trauma, and Tumor. If you have a User ID and Password please enter them in the fields above and click "Log in." If you would like to access the ORTHOPEDICS Hyperguide TM please click here: Tutorials provide you with an overview of important topics and focus on areas such as clinical and radiographic features, diagnosis, risk factors, evaluation, treatment options, and patient outcomes. Throughout each tutorial, you will be able to access images, including clinical photographs, radiographs, and magnetic resonance images. If you would like additional information on a specific topic, bibliographies are included at the conclusion of each tutorial. Online lectures simulate the lecture experience. Experts in the orthopedic community provide lectures in their respective specialty areas. The slides automatically advance along with the audio, and a transcript of the lecture is shown below the slides. Printable transcripts of the lectures are also available.

45. Jahrbuch-CD Der MPG 2003 - Severe Cleidocranial Dysplasia Severe cleidocranial dysplasia can mimic hypophosphatasia. Zusammenfassung.cleidocranial dysplasia (OMIM 119600) is a skeletal dysplasia caused by http://www.mpg.de/forschungsergebnisse/wissVeroeffentlichungen/archivListenJahrb

Publikation Beteiligte Max-Planck-Institute MPI f¼r molekulare Genetik Autoren Unger, S.; Mornet, E.; Mundlos, S.; Blaser, S.; Cole, D. E. Publikationstyp Artikel Titel Severe cleidocranial dysplasia can mimic hypophosphatasia Zusammenfassung Quelle European Journal of Pediatrics Sprache English Schlagworte cleidocranial dysplasia, hypophosphatasia, runx2 gene, tnsalp gene

46. Jahrbuch-CD Der MPG 2003 - Cleidocranial Dysplasia With De cleidocranial dysplasia with decreased bone density and biochemical findings cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal http://www.mpg.de/forschungsergebnisse/wissVeroeffentlichungen/archivListenJahrb

Publikation Beteiligte Max-Planck-Institute MPI f¼r molekulare Genetik Autoren Morava, E.; K¡rteszi, J.; Weisenbach, J.; Caliebe, A.; Mundlos, S.; M©hes, K. Publikationstyp Artikel Titel Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia Zusammenfassung Quelle European Journal of Pediatrics Sprache English Schlagworte alkaline phosphatase, cleidocranial dysplasia, hypophosphatasia, pyridoxal-5-phosphate

47. An Assessment Of Root Cementum In Cleidocranial Dysplasia cleidocranial dysplasia (CCD) is a rare condition characterized by defects ofthe clavicles, cleidocranial dysplasia has been mapped to chromosome 6p21, http://www.angle.org/anglonline/?request=get-document&issn=0003-3219&volume=071&

48. An Assessment Of Root Cementum In Cleidocranial Dysplasia teeth in patients with CCD is not supported by the findings of this study.Key Words cleidocranial dysplasia, Acellular cementum, Cellular cementum. http://www.angle.org/anglonline/?request=get-abstract&issn=0003-3219&volume=071&

49. Cleidocranial Dysplasia Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/CLEIDOCRANIAL DY

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Cleidocranial dysplasia, a rare congenital defect characterized by deficient ossification of bone, particularly mid line bone formed in membrane. The condition is transmitted as an autosomal dominant trait with widely variable phenotypic expression. The classical site of the abnormality is the clavicle which may show a spectrum of radiographic appearances ranging from hypoplasia of the mid third of clavicular shaft to complete absence of the clavicle. This clavicular dysplasia is most prominent in the lateral aspect of the clavicle. Clinically the shoulders droop forward and are excessively mobile. Children with complete bilateral absence of the clavicle can approximate their shoulders anteriorly ( Fig.1 ). Radiographs may show a range of other abnormalities. The head may be large with frontal bossing, delayed or absent closure of fontanelle ( Fig.2

50. Cleidocranial Dysplasia Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/CLEIDOCRANIAL

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Cleidocranial dysplasia, an autosomal dominant disorder with numerous clinical findings, including mild shortening of stature, large brachycephalic head, small face, and high, arched palate with delayed eruption of supernumerary teeth. In addition, the patient may have genu valgum and short fingers. Radiographic features reveal poorly ossified skull, widening of the sutures and multiple wormian bones. In some patients the foramen magnum is deformed, and basilar impression is often evident. Absence of the clavicle (partial or total) may be observed ( Fig.1 ). Other findings include hypoplastic scapula, bell-shaped thorax and pelvic changes (delayed ossification of the pubic bones, a wide symphysis pubis and narrow iliac wings). Coxa valga or coxa vara deformity may also develop, and in some cases spina bifida occulta is present. The hands and wrists also may be involved. DR/RB The Encyclopaedia of Medical Imaging Volume III 1 Cleidocranial dysplasia, Fig. 1

51. Cleidocranial Dysplasia cleidocranial dysplasia. CCD. Cleidocranial dysostosis cleidocranial dysplasia Cleidocranial dysostosis in a 46year-old woman http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=66

52. Cleidocranial Dysplasia cleidocranial dysplasia. CCD. Cleidocranial dysostosis. 19 images from 16 to 19 ,previous 1 2 Cleidocranial dysostosis Cleidocranial dysostosis http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?offset=15&cat3=66

53. WebMD With AOL Health - Yunis Varon Syndrome cleidocranial dysplasia w/ Micrognathia, Absent Thumbs, Distal Aphalangia.Disorder Subdivisions. None. General Discussion http://aolsvc.health.webmd.aol.com/hw/health_guide_atoz/nord1094.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; Thursday, September 08, 2005 WebMD Main Condition Centers Medical Library Health Tools ... Site Map You are in Medical Library Choose a Topic All Content Sources Health Guide A-Z Illustrated Guides Medical News Archive Member Stories Symptom Checker Health Topics Symptoms Medical Tests Medications ... For a Complete Report 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 This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

54. Cleidocranial Dysplasia Topic - Unified Search Environment cleidocranial dysplasia Topic Tree cleidocranial dysplasia MSH/MH/D002973 MSH/PM/D002973 MSH/PM/D002973 MSH/PM/D002973 http://www.use.hcn.com.au/portals/shared/subject.`Cleidocranial Dysplasia`/home.

Cleidocranial Dysplasia Topic Tree Definition: A rare autosomal dominant condition in which there is defective ossification of the cranial bones with large fontanels and delayed closing of the sutures, complete or partial absence of the clavicles, wide pubic symphysis, short middle phalanges of the fifth fingers, and dental and vertebral anomalies. (From Dorland, 27th ed) Synonyms and Source Vocabularies: Cleidocranial Dysplasia Dysostosis, Cleidocranial Bone Diseases, Developmental Basal Cell Nevus Syndrome Dwarfism Dysostoses ... Marfan Syndrome Osteochondrodysplasias Achondroplasia Chondrodysplasia Punctata Cleidocranial Dysplasia Diaphyseal Dysplasia, Progressive ... Acro-Osteolysis

55. FSP Syndromes cleidocranial dysplasia RUNX2; 6p21 CoffinLowry RPS6KA3; Xp22 Cleidocranialdysplasia l Runt-related transcription factor 2 (RUNX2) http://www.neuro.wustl.edu/neuromuscular/spinal/fsp.html

Front Search Index Links ... Patient Info FAMILIAL SPINAL CORD SYNDROMES General principles Familial Spastic Paraplegia ( SPG Dominant : Atlastin; 14q11 : Spastin; 2p22 SPG 12q Recessive : Paraplegin; 16q24 (Troyer): Spartin; 13q12.3 (Mast): Maspardin; 15q22 Infantile onset : Alsin; 2q33 SPOAN X-linked : Proteolipid protein; Xq22 Other: Deafness Familial Spastic Paraplegia +... Ataxia CNS Ocular PNS ... Systemic Disorders Leukodystrophies Adrenomyeloneuropathy : ALDP; Xq28 Adult-onset Krabbe : GalC; 14q31 MLD : Arylsulfatase A; 22q13 Familial Spinal Cord Syndromes AAA syndrome : Aladin; 12q13 Adrenomyeloneuropathy : ALDP; Xq28 Alexander : GFAP; 17q21; Dominant Alzheimer's : Presenilin 1; 14q24; Dominant Arnold-Chiari Malformation (SPG9): 10q23; Dominant Cavanagh's Cerebral palsy-Symmetrical Cerebrotendinous xanthomatosis : Cytochrome 450; 2q33 Charlevoix-Saguenay : Sacsin; 13q11 Deafness : X-linked DRPLA : DRPLA protein; 12p13; Dominant Dystonias: DOPA-responsive Episodic ataxia : 1p; Dominant Evans Fitzsimmons syndrome Friedreich ataxia : FRDA; 9q13 Hereditary Motor Syndromes HHH syndrome HMN + UMN signs : Senataxin; 9q34

56. Cleidocranial Dysostosis Cleidocranial dysostosis or cleidocranial dysplasia is syndrome consisting ofdelayed Early prenatal ultrasound diagnosis of cleidocranial dysplasia. http://www.stevensorenson.com/residents6/cleidocranial_dysostosis.htm

Home Up [ Cleidocranial dysostosis ] Melorheostosis Osteopathia striata Osteopetrosis Osteopoikilosis ... Camurati-Engelmann disease Cleidocranial dysostosis or cleidocranial dysplasia is syndrome consisting of delayed ossification of midline structures. The syndrome is autosomal dominant and affects bones formed intramembraneously. The disease results in short stature. REFERENCES Altschuler EL. Cleidocranial dysostosis and the unity of the Homeric epics: an essay. Clin Orthop. 2001 Feb;(383):286-9. Stewart PA, Wallerstein R, Moran E, Lee MJ. Early prenatal ultrasound diagnosis of cleidocranial dysplasia. Ultrasound Obstet Gynecol. 2000 Feb;15(2):154-6. Click on an image below for additional information: BACK

57. Cleidocranial Dysplasia cleidocranial dysplasia. Printable version. cleidocranial dysplasia is an autosomaldominant heritable skeletal disease caused by heterozygous mutations in http://www.humpath.com/article.php3?id_article=1404

58. PAEDIATRIC BONE DISORDERS K) cleidocranial dysplasia AD, This is a proportionate form of dwarfism whichaffects only those bones which are formed intramembranously. http://www.worldortho.com/database/etext/bone_disorders.html

PAEDIATRIC BONE DISORDERS Background info: Dwarfism can be PROPORTIONATE - manifesting a symmetric decrease in both truncal and limb length. Dwarfism can be DISPROPORTIONATE - manifesting either a short limb disorder or a short trunk disorder. Short - limbed dwarfism can affect either the proximal, the middle or the distal region of a limb. FORMS OF DYSPLASIA include: Achondroplasia Spondyloepiphyseal Dysplasia Chondrodysplasia Punctalta Kneist Syndrome - AD Metaphyseal chondrodysplasia Multiple Epiphyseal Dysplasia Dysplasia Epiphysiallis Haemimeliea [known as Trevors Disease] Progressive Diaphyseal Dysplasia - AD Mucopolysaccharidosis Diastrophic Dysplasia - AR Cleidocranial Dysplasia - AD Benign Bone Growth Dysplasia A) Achondroplasia Achondroplasia is the most common form of disproportionate dwarfism. It is an autosomal dominant (AD) condition with an 80% spontaneous mutation. It is caused by abnormal endochondral bone formation [in the proliferative zone] and can be associated with late-in-life childbirth. It is a quantitative [not a qualitative] cartilage defect. The afflicted child will have dwarfed limbs and a normal trunk.

59. Cleidocranial Dysplasia W/ Micrognathia, Absent Thumbs, Distal ThirdAid.com the world s first dedicated online patient to patient medical helpcommunity. http://www.thirdaid.com/conditions/Cleidocranial_Dysplasia_w|_Micrognathia,_Abse

60. Cleidocranial Dysplasia - Talk Medical Humanfriendly medical definition of cleidocranial dysplasia. http://www.talkmedical.com/medical-dictionary/3043/Cleidocranial-Dysplasia

Home Medications Medical Dictionary Talk Medical ... Medical Dictionary Newsletter Subscribe to the free monthly health digest. Relevant health articles just for you. Tell a friend Cleidocranial Dysplasia Cleidocranial dysplasia: A genetic (inherited) disorder of bone development characterized by: Absent or incompletely formed collar bones (the "cleido-" part refers to the clavicles, the collar bones) The child with this disorder can bring its 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. The disorder is transmitted in an autosomal dominant manner. A parent with the condition has a 50:50 chance that each of their children will have the condition. Boys and girls stand an equal chance of being affected. The gene for the condition has been found on chromosome 6 (specifically, in band p21). The gene is for the transcription factor CBFA1 (core-binding factor alpha subunit 1). Mutations of CBFA1 cause this disorder. A possible example of this disorder has been found in the skull of a Neanderthal man. (The patient could not be interviewed as to family history).

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