1. Cleidocranial Dysplais Welcome To cleidocranial dysplasia. CCD. About Me http://www.themrswebdirectory.com/ccdindex

Welcome To Cleidocranial Dysplasia CCD About Me Dental Doctors Fibromyalgia and CCD ... Information page 5 New Information page 6 Studies page 1 Studies page 2 Survey on CCd ... Medical terms New Information page 7 Back to main page Health Powered by TheMrsWebDirectory.com Visitors since 1/1/02 Old Guest Book Sponsored banner clickXchange

2. 181: A Natural History Of Cleidocranial Dysplasia. Syndrome. cleidocranial dysplasia (CCD, CLCD). Synonyms. MarieSainton syndrome http://www.faseb.org/genetics/ashg99/f181.htm

Program Nr: 181 A Natural History of Cleidocranial Dysplasia. S.C. Cooper , B. Lee , G. Zhou , C. Flaitz , J. Hecht 1) University of Texas, Houston, TX; 2) Baylor College of Medicine, Houston, TX.

3. UW Radiology Main Online Teaching File: Case 35 Answers cleidocranial dysplasia is an autosomal dominant disorder whose very name tells us a lot about it. Dysplasia indicates 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

4. Cleidocranial_dysplasia Find information about this rare genetic disorder, chat and more topics for discussion.Category Health Conditions and Diseases cleidocranial dysplasia......This page was last updated on January 5, 2003. http://cleidocranial_dysplasia.homestead.com/page1.html

This page was last updated on: January 5, 2003

5. Infopage2 cleidocranial dysplasia (CCD) is a domintly inherited disorder. Werecently demonstrated that mutations in transcription factor http://cleidocranial_dysplasia.homestead.com/infopage2.html

Cleidocranial dysplasia (CCD) is a domint ly inherited disorder . We recently demonstrated that mutations in transcription factor CBFA1, on chromosome 6p21, are associated with CCD. We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD. In 18 patients, mutations were detected in the coding region of the CBFA1 gene, including 8 frame shift, 2 nonsense, and 9 missense mutation s, as well as 2 novel polymorphisms . A cluster of missense mutations at arginine 225 (R225) identifies this residue as crucial for CBFA1 function. In vitro green fluorescent protein fusion studies show that R225 mutations interfere with nuclear accumulation of CBFA1 protein. There is no phenotypic difference between patients with deletion or frame shifts and those with other intragenic mutations , suggesting that CCD is generally caused by hyploinsufficiency. However, We were able to extend the CCD phenotypic spectrum. A missense mutation identifies in one family with supernumerary teeth and radiologically normal skeleton indicates that mutations in CBFA1 can be associated exclusively with a dental phenotype. In addition, one patient with severe CCD and a frame shift mutation in codon 402 had osteoporosis leading to recurrent bone fractures and scoliosis, providing first evidence that CBFA1 may help maintain adult bone, in addition to its function in bone development.(This came from the University of Freiburg Medical Center, Freiburg Germany

6. Studies Page1 On CCd bone disorder characterized in diaphyseal medullary stenosis. we havealso redifined the critical region for cleidocranial dysplasia. http://www.themrswebdirectory.com/studies1

Studies page 1 1. We are studying the natural history and molecular biology of the rare bone dysplasia and are seeking additional patients and their families. Hereditary bone dysoplasia with malignant changes2, is an autosomal dominant(McKusick9s Mendelian Inheritance in Man #112250). bone disorder characterized in diaphyseal medullary stenosis. we have also redifined the critical region for cleidocranial dysplasia. To read more about this go to http://www.hum-molgen.de/clinical/221196-7.html if you would like to pertisipate contact them at (212)241-6947 or fax (212)360-1890 or e-mail jam@msvax.mssm.edu all research with be performed under IRB approval and all samples will be effectivly prtected against indentification of patient/donar. Click here to go to the web site that I found this. 3. Goodman et al (1975) reported a family in which 2 brothers with cleidocranial dysplasia associated were born unaffected first-cousin parents; he also reported a case born from a neice/uncle union. Click here to go to web site 4. Several older reports of affected sibs with preumably normal parents were reviewed by Lasker (1946).

7. Cleidocranial Dysplasia - Medical Dictionary Of Popular Medical Terms To Help Yo cleidocranial dysplasia A genetic (inherited) disorder of bone developmentcharacterized by Absent or incompletely formed collar http://www.medterms.com/script/main/art.asp?articlekey=6549&rd=1

8. Cleidocranial Dysplasia cleidocranial dysplasia. What is cleidocranial dysplasia? Of all the cases of CleidocranialDysplasia, onethird are spontaneous and two-thirds are genetic. http://www.faces-cranio.org/Disord/CCD.htm

The National Craniofacial Association P. O. Box 11082 * Chattanooga, TN 37401 Cleidocranial Dysplasia What is Cleidocranial Dysplasia? Cleidocranial Dysplasia ( cleido = collar bone, + cranial = head, + dysplasia = abnormal forming) , also known as Cleidocranial Dysostosis and Marie-Sainton Disease, is a condition characterized by defective development of the cranial bones and by the complete or partial absence of the collar bones (clavicles). Characteristics include: Delayed closure (ossification) of the space between the bones of the skull (fontanels) Premature closing of the coronal suture Protruding jaw (mandible) and protruding brow bone (frontal bossing) Wide nasal bridge due to increased space between the eyes (hypertelorism) High arched palate or possible cleft palate Short stature Scoliosis of the spine Why did this happen? There is no link between anything the mother did or did not do while she was pregnant and the occurrence of Cleidocranial Dysplasia. It is transmitted as an autosomal dominant trait. The cause is not yet known, but several chromosome abnormalities have been linked with this syndrome, including chromosome 6p21. Will this happen to children I have in the future?

9. Google Directory - Health > Conditions And Diseases > Rare Disorders > Cleidocra Search only in cleidocranial dysplasia Search the Web Baylor College of Medicine http//www.faseb.org/genetics/ashg99/ f181.htm An article entitled A Natural History of cleidocranial dysplasia. and more topics for discussion. cleidocranial dysplasia - http// cleidocranial_ dysplasia. homestead. com/ page1. http://directory.google.ch/Top/Health/Conditions_and_Diseases/Rare_Disorders/Cle

Directory Help Search only in Cleidocranial Dysplasia Search the Web Cleidocranial Dysplasia Health Conditions and Diseases Rare Disorders Go to Directory Home Related Categories: Web Pages Viewing in Google PageRank order View in alphabetical order Baylor College of Medicine http://www.faseb.org/genetics/ashg99/f181.htm An article entitled: A Natural History of Cleidocranial Dysplasia. Cleidocranial Dysplasia http://www.themrswebdirectory.com/ccdindex Contains information about this rare genetic disorder, chat and more topics for discussion. Cleidocranial Dysplasia http://cleidocranial_dysplasia.homestead.com/page1.html Find information about this rare genetic disorder, chat and more topics for discussion. National Library of Medicine: CCD, CLCD http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome233.html A list of synonyms of sleidocranial dysplasia, along with a summary and major features. MedicineNet.com: Medical Dictionary An explanation of what cleidocranial dysplasia is and how it is transmitted. Readers Digest Health http://www.rd.com/common/nav/index.jhtml?articleId=8612948

10. Cleidocranial Dysplasia (CCD, CLCD) A list of synonyms of sleidocranial dysplasia, along with a summary and major features.Category Health Conditions and Diseases cleidocranial dysplasia......View the Full Record Syndrome, cleidocranial dysplasia (CCD, CLCD).Synonyms, MarieSainton syndrome. Scheuthauer-Marie-Sainton syndrome. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome233.html

Multiple 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 digital dysostosis cleidocranial dysostosis craniocleidodysostosis dysostosis cleidocranialis dysostosis cleidocraniodigitalis dysostosis cleidocraniopelvina dysostosis generalisata dysplasia cleidocranialis dysplasia cleidofacialis mutational dysostosis osteodental dysplasia (ODD) pelvicocleidocranial dysostosis Summary A congenital disorder of bone formation with clavicular hypoplasia or agenesis with a narrow thorax, allowing approximation the shoulders in front of the chest occurring with delayed ossification of the skull, excessively large fontanelles, and delayed closing of the sutures. The fontanelles may remain open until adulthood, but the sutures often close with interposition of wormian bones. Bosses of the frontal, parietal, and occipital regions give the skull a large globular shape with small face. The characteristic skull abnormalities are sometimes referred to as the "Arnold head" named after the descendants of a Chinese who settled in South Africa and changed his name to Arnold. More than 100 additional anomalies may be associated, including wide pubic symphysis, dental abnormalities, short middle phalanges of the fifth fingers, delayed skeletal maturation, hearing deficiency, and mild mental retardation in some cases. Major Features Head and neck: Brachycephaly with bossing of the frontal, parietal, and occipital bossing give the head a large globular appearance with a small face because of smallness of the maxillary and zygomatic bones and relative prognathism. Additional abnormalities include open fontanels; open cranial sutures; calvarial thickening in the supraorbital part of the bone, squama of the temporal bones, and the occipital bone; wormian bones filling suture lines, occasional absence of the parietal bones, faulty development of the foramen magnum, and dysplasia of the paranasal sinuses and mastoids.

11. Osteogenesis Through CBFA-1; Cleidocranial Dysplasia The heterozygous cbfa1 (+) /cbfa1 () mice showed skeletal defects similarto those of a human syndrome, cleidocranial dysplasia (CCD). 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

12. Cleidocranial Dysplasia Articles, Support Groups, And Resources cleidocranial dysplasia articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). cleidocranial dysplasia. http://www.medhelp.org/HealthTopics/Cleidocranial_Dysplasia.html

[Health Topics A-Z] A B C D ... Z Cleidocranial Dysplasia Medical Glossary: CLEIDOCRANIAL DYSPLASIA Ask The Doctor Forums CLEIDOCRANIAL DYSPLASIA (Child Behavioral Health Forum) [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

13. CLEIDOCRANIAL DYSPLASIA Subject cleidocranial dysplasia Topic Area Normal Child Development Forum TheChild Behavioral Health Forum Question Posted By chattymom on Tuesday, July 16 http://www.medhelp.org/forums/ChildBehavior/messages/32058a.html

Advertisement Welcome to .... Questions in The Child Behavioral Health Forum are being answered by Dr. Kevin Kennedy of Harvard Vanguard Medical Associates in Greater Boston. Subject: CLEIDOCRANIAL DYSPLASIA Topic Area: Normal Child Development Forum: The Child Behavioral Health Forum Question Posted By: chattymom on Tuesday, July 16, 2002 She is pregnant again and is concerned about this. She can find no information. Is there someplace to go or call for information? Thank you for your time. Answer Posted By: HVMA-Ph.D.-KDK on Wednesday, July 17, 2002 This inherited disorder affects the development of bones and can include an absent or not completely formed collar bone, dental abnormalities and facial appearance often typified by protruding jaw, wide nasal bridge, and poorly aligned teeth. The disorder requires that only one parent has the trait, and the risk of recurrence is 50%. If your friend conducts an internet search, she will find a number of web sites devoted to the condition. Child Behavioral Health Forum Forum Archives Med Help Intl.

14. Cleidocranial Dysplasia cleidocranial dysplasia,, Print this article, cleidocranial dysplasia, Fig. 1 AP chestradiograph. Note bellshaped thorax and complete absence of the clavicles. http://www.amershamhealth.com/medcyclopaedia/Volume VII/cleidocranial dysplasia.

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required 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

15. Cleidocranial Dysplasia cleidocranial dysplasia,, Print this article, cleidocranial dysplasia, Fig. 1 a.Frontal radiograph demonstrates partial absence of the clavicles bilaterally. http://www.amershamhealth.com/medcyclopaedia/Volume III 1/CLEIDOCRANIAL DYSPLASI

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required 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

16. Virtual Children's Hospital: Paediapaedia: Cleidocranial Dysplasia Paediapaedia Musculoskeletal Diseases cleidocranial dysplasia. MichaelP. D'Alessandro, MD Peer Review Status Internally Peer Reviewed 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 See related Provider Textbooks about Radiology See related Provider Topics Diagnostic Imaging Procedures and Therapies or Radiology See related Patient Textbooks about Radiology See related Patient Topics Diagnostic Imaging Procedures and Therapies or Radiology Virtual Children's Hospital Home Virtual Hospital Home Site Map ... UI Health Care Home http://www.vh.org/pediatric/provider/radiology/PAP/MSDiseases/CleidocranDys.html

17. Virtual Children's Hospital: Paediapaedia: Musculoskeletal Disease Index Caudal Regression Syndrome / Sacral Agenesis; cleidocranial dysplasia; CongenitalHip Dislocation (Infantile Hip Dislocation) (Congenital Dislocation of the Hip http://www.vh.org/pediatric/provider/radiology/PAP/MSDiseases/MSDisIndex.html

Paediapaedia: Musculoskeletal Diseases Musculoskeletal Disease Index Michael P. D'Alessandro, M.D. Peer Review Status: Internally Peer Reviewed Normal Neonatal Pelvis and Hips Achondroplasia Aneurysmal Bone Cyst (ABC) Battered Child Syndrome, Bone Injuries (Child Abuse) (Trauma X) ... Title Page See related Provider Topics Bone Diseases Bones, Joints and Muscles Ear, Nose and Throat Endocrine System (Hormones) ... Scoliosis or Thyroid Diseases See related Patient Topics Bone Diseases Bones, Joints and Muscles Ear, Nose and Throat Endocrine System (Hormones) ... Scoliosis or Thyroid Diseases Virtual Children's Hospital Home Virtual Hospital Home Site Map ... UI Health Care Home http://www.vh.org/pediatric/provider/radiology/PAP/MSDiseases/MSDisIndex.html

18. Treatment Of Cleidocranial Dysplasia Treatment of cleidocranial dysplasia I have a question about CleidocranialDysplasia. About 30 years ago, when I was fourteen, I http://www.parentsplace.com/expert/dentist/qas/0,10338,239996_106766,00.html

var cimsCid = ''; var cimsUid = '106766'; main COMMUNITY Message Boards Chats ... Community Challenges find on iVillage on astrology on babies on beauty on books on food on health on lamaze.com on money on parenting on pets on relationships on women.com on work MAGAZINES on Cosmopolitan on Country Living on Good Housekeeping on House Beautiful on Marie Claire on Redbook on Victoria you are here: iVillage parentsplace experts dentist ... Talent Test more centers iMaternity Shop Amazon RECOMMENDED Baby-Making Basics Are You Pregnant? Chinese Gender Chart Top Baby Names by State ... Postpartum Depression: Are You at Risk? WHAT'S NEW Best Advice for Life after Baby Twin Pregnancy Symptoms Week-by-Week Pregnancy Guide TOPICS Trying to conceive Infertility Adoption Pregnancy ... Pregnancy and babies A-Z FEATURES Boards Chats Experts Quizzes ... Tools FREE NEWSLETTERS ParentsPlace more newsletters Treatment of Cleidocranial Dysplasia I have a question about Cleidocranial Dysplasia. About 30 years ago, when I was fourteen, I had about 12 remaining baby teeth and four or five supernumary teeth removed in a surgical procedure. The scar tissues created in this process prevented the adult teeth from coming in, and a subsequent procedure was done to expose the adult teeth and band them for braces. The adult teeth were then "pulled" into place. Needless to say, this was not a particularly pleasant course of treatment. I now have a child who inherited my condition. Has the state of the art advanced over the last 30 years, or can he look forward to going through something like I did? Any advantage to getting his condition treated earlier?

19. Nature Publishing Group Original article. cleidocranial dysplasia radiological appearances on dental panoramicradiography. CM McNamara 1,a , BCO'Riordan 2 , M Blake 1 and JR Sandy 3. http://www.nature.com/cgi-taf/DynaPage.taf?file=/dmfr/journal/v28/n2/abs/4600417

20. Nature Publishing Group Article. The cDNA cloning of the transcripts of human PEBP2 A/CBFA1mapped to 6p12.3p21.1, the locus for cleidocranial dysplasia. http://www.nature.com/cgi-taf/DynaPage.taf?file=/onc/journal/v15/n3/abs/1201352a

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