Extractions: Objectives/Hypothesis: Cleidocranial dysplasia is an autosomal dominant skeletal syndrome characterized by open skull sutures and clavicular hypoplasia or aplasia. It results from mutations in the transcription factor CBFA1 required for osteoblast differentiation and normal bone formation. Therefore, mutations in CBFA1 would be expected to cause conductive or sensorineural hearing loss, or both. The objective of the study was to evaluate the auditory function and head and neck manifestations of patients with cleidocranial dysplasia. Study Design: Case series. Methods: Patients with cleidocranial dysplasia who were identified from the case records of the Craniofacial Anomalies Center at the University of California San Francisco (San Francisco, CA) gave medical and developmental history, underwent a general physical examination and a thorough head and neck examination, and completed a comprehensive audiological evaluation. Results: Four families with eight affected individuals in all and one sporadic case were studied. The nine patients showed highly variable expression of abnormalities. Head and neck examination demonstrated abnormal cranial sutures, broad nasal root, clavicular hypoplasia or aplasia, and abnormally high arched palate. Although seven of nine patients showed eustachian tube dysfunction, recurrent otitis media in childhood requiring surgical intervention was not common. Hearing loss was present in three of nine patients (33%). One patient had a 40-dB mixed hearing loss, the second had a 25-dB low-frequency conductive hearing loss, and the third had a 45-dB high-frequency sensorineural hearing loss.
Extractions: Introduction Scheuthauer-Marie-Sainton syndrome is commonly known as cleidocranial dysplasia (CCD) which is an autosomal dominant skeletal dysplasia caused by mutations in the bone/cartilage specific osteoblast transcription factor RUNX2 gene [1].It is characterized by macrocephaly with persistant open sutures, absent or hypoplastic clavicles, dental anomalies and delayed ossification of pubic bones[2]. Ten year old girl presented with tubercular cervical lymphadenopathy on left side with healed scars on right side. On examination she was found to have height of 120cm and weight 19 Kg. She had macrocephaly with head circumference of 52.5 cm. biparietal diameter of 23 cm. and unfused anterior fontanalle. The face demonstrated hypertelorism. Thorax was funnel shaped and the most striking feature was abnormal hypermobility of shoulders, permitting the shoulders to come together in front of the chest. Radiological examination regarding osseous malformations was carried out. Radiograph skull A.P. view [Fig-1] showed widened biparietal diameter with superior flattening leading to “Tam O Shanter” skull. Multiple wormian bones were seen in lambdoid suture with persistant anterior fontanalle. Lateral view of skull [Fig-2] showed shortening of cranial base anteriorly; in the posterior region, the dimensions were smaller due to a significantly shortened clivus. There was frontal bossing and downward flexion of lower occipital squamae. The physiological mandibular angle was replaced by a rounded outer contour of the mandible, referred to as "banana shaped". Wormian bones were marked in the lambdoid suture. Nasal bones were missing and supernumerary teeth were present.
Cleidocranial Dysplasia Synonyms, Eastern Carolina cleidocranial dysplasia Synonyms University Health Systems of Eastern Carolinaserves tarboro, ahoskie, edento, winsor, maxhead, dear county, http://www.uhseast.com/112487.cfm
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
Journal Of Craniofacial Surgery - UserLogin A Case of a Japanese Patient with cleidocranial dysplasia Possessing a cleidocranial dysplasia (CCD) is an autosomal dominant human bone disease http://www.jcraniofacialsurgery.com/pt/re/jcransurg/fulltext.00001665-200201000-
Accessing Article The European Journal of Human Genetics is the official Journal of the EuropeanSociety of Human Genetics, publishing highquality, original research papers, http://www.nature.com/ejhg/journal/v11/n11/full/5201062a.html
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Extractions: @import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics doi:10.1038/ng0797-307 Brendan Lee , Kannan Thirunavukkarasu , Lei Zhou , Lucio Pastore , Antonio Baldini , Jacqueline Hecht , Valeric Geoffrey , Patricia Ducy Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. Department of Molecular Genetics, the University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA. Department of Pediatrics and Division of Medical Genetics, the University of Texas Medical School, Houston, Texas 77030, USA. e-mail: blee@bcm.tmc.edu. Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by hypoplastic or absent clavicles, large fontanelles, dental anomalies and delayed skeletal development . The phenotype is suggestive of a generalized defect in ossification and is one of the most common skeletal dysplasias not associated with disproportionate stature. To date, no genetic determinants of ossficiation have been identified. CCD has been mapped to chromosome 6p21
CLEIDOCRANIAL DYSPLASIA: THE LIVED EXPERIENCE cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder with a range of cleidocranial dysplasia has been studied specifically in Caucasians, http://www.engineering.tech.nhl.nl/engineering/personeel/kuiperb/dirs/personal/c
Extractions: CLEIDOCRANIAL DYSPLASIA: THE LIVED EXPERIENCE by Kelly K. Wosnik kwosnik@yahoo.com A thesis submitted to the faculty of Brigham Young University In partial fulfillment of the requirements for the degree of Master of Science College of Nursing Brigham Young University August 2003 ABSTRACT CLEIDOCRANIAL DYSPLASIA: THE LIVED EXPERIENCE Kelly K. Wosnik College of Nursing Master of Science www.cleidocranialdysostosis.org . A demographic questionnaire was used to purposefully sample participants. A tape recorded open-ended interview was used to elicit qualitative information regarding: (a) participants greatest concerns about having CCD, (b) what was most difficult about living with CCD, (c) what was most helpful in living with CCD, (d) participants coping mechanisms, and (e) whether or not CCD was a positive or negative experience. ACKNOWLEDGEMENTS CHAPTER ONE Introduction Review of Literature To understand the lived experience of individuals with CCD it is imperative to understand the physiologic conditions of the disorder. Cleidocranial Dysplasia can be traced back over 30,000 years to the Neanderthal Man (Siggers, 1975). Researchers believe the author of the Homeric epics wrote of CCD in 1250-750 BC when portraying the character Thersites (Altschuler, 2001). Beasley and Carter (Altschuler, 2001), two geneticists, independent of one another, both diagnosed Thersites with CCD because of his rounded shoulders stooping together over his caved-in chest and his "skull warped to a point" (lines 217-219 of the Iliad). In more modern times, CCD was first described by Meckel in 1760, but it was more accurately defined by Scheuthauer in 1871 (Siggers, 1975). In 1898, Marie and Sainton, two French geneticists, realized the hereditary nature of the disease and named it dysostose cleidocranienne hereditaire, or Cleidocranial Dysostosis (Short, 1979).
Extractions: Standard Views Handbook of Fetal Abnormalities Algorithm Appendix ANTENATAL SONOGRAPHIC FINDINGS IN SKELETAL DYSPLASIAS Type of limb shortening Rhizomelia Mesomelia Micromelia Altered thoracic dimensions Long narrow thorax Short thorax Hand and foot abnormalities Postaxial polydactyly Chondroectodermal dysplasia Short rib-polydactyly syndrome (type I, type III)
Penn State Faculty Research Expertise Database (FRED) , A rare autosomal dominant condition inwhich there is Dysostoses, Cleidocranial, Dysplasia, Cleidocranialcleidocranial dysplasia. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D002973
NEONATAL SERVICE UNIV. STELL/TYGERBERG HOSP. SOUTH AFRICA cleidocranial dysplasia (DYSOSTOSIS). PHOTO QUIZ 17. This disease is a hereditarydisorder affecting bones that develop by intramembranous formation, http://academic.sun.ac.za/healthsciences/schools/medicine/paediatrics/dept/nquiz
In Vivo Axial Forces And Bending Moments On Abutments Treatment of a Patient with cleidocranial dysplasia Using Osseointegrated ImplantsA Patient Report. Vicki C. Petropoulos, DMD, MS/Thomas J. Balshi, http://dentalimplants-usa.com/Research/Cleidocranial/Cleidocranial.html
Extractions: March/April , Volume 19, Issue 2 This patient report describes the treatment of a 42-year-old woman with cleidocranial dysplasia. Endosseous implants were used to restore the mandibular and maxillary arches with fixed prostheses. Six implants were placed in the mandible and immediately loaded with an acrylic resin fixed prosthesis. In the maxillary arch, 10 implants were submerged for 4 months prior to functional loading. A transitional denture was relined and placed in the maxilla 10 days after implant placement. Three months later, a definitive mandibular prosthesis was fabricated. The definitive maxillary restoration was delivered 6 months after surgery. The most recent follow-up, 6 months after delivery, confirmed a satisfactory treatment result to date. INT J ORAL MAXILLOFAC IMPLANTS 2004;19:282 28 PDF FILE of Article BACK TO RESEARCH AT PROSTHODONTICS INTERMEDICA Click here to see an Overview of Prosthodontics Intermedica
Indian Pediatrics - Editorial Key words cleidocranial dysplasia, YunisVaron syndrome. The diagnosis of asyndrome in a neonate with multiple congenital malformations is very important http://www.indianpediatrics.net/apr2005/apr-373-375.htm
Extractions: Yunis-Varon syndrome is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones along with complete or partial absence of the clavicles (cleidocranial dysplasia), characteristic facial features, and/or abnormalities of the fingers and/or toes. Key words: Cleidocranial dysplasia, Yunis-Varon syndrome. The diagnosis of a syndrome in a neonate with multiple congenital malformations is very important from the point of view of short and long-term management and genetic counseling. We report a male neonate with Yunis-Varon syndrome, with some features not earlier reported such as recurrence in successive offspring, polyhydramnios, large testes and periosteal reaction and widening of ends of long bones. Case Report Male neonate weighing 2.6 kg was born at 36 weeks of gestation of a non-consanguinous marriage by spontaneous vaginal delivery to a 22-year-old gravida 2 mother. The mother gave history of having given birth to an earlier baby with dysmorphic features who had died on day 1 of life. Apart from polyhydramnios, the antenatal period was unremarkable. The neonate required resuscitation at birth and developed respiratory distress soon after.
Extractions: This Article Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend 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 Frame, K. Articles by Evans, R. I. K Frame and RI Evans Department of Children's Dentistry and Orthodontics, Dental School, Birmingham. A 9-year-old boy suffering from cleidocranial dysplasia presented with multiple unerupted permanent teeth and five unerupted supernumerary teeth. During a 4-year observation and treatment period he developed nine more supernumerary teeth at a time when normally new teeth would no longer be forming. By the age of 13 years and 5 months a total of fourteen supernumerary teeth had been produced and it is possible that more teeth may develop in the future.
119600 CLEIDOCRANIAL DYSPLASIA; CCD cleidocranial dysplasia, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED Jensen, BL Somatic development in cleidocranial dysplasia. Am. J. Med. Genet. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:119600] -e
*600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2 (2001) reported 2 new mutations in RUNX2 causing cleidocranial dysplasia. A sporadic case of cleidocranial dysplasia (119600) was found to be caused by http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:600211] -e
Hadassah Medical Center - Becker, A., Lustmann, J and Shteyer, A. cleidocranial dysplasia part 1 Generalprinciples of orthodontic and surgical treatment modality. Am. J. Orthod. http://www.hadassah.org.il/English/Eng_SubNavBar/TheDoctors/LustmannJoshua.htm
Extractions: Prof. Joshua Lustmann Born 1941, Poland. DMD - 1968, Hebrew Univ.: Lect.1975;Sen.Lect.1978;Assoc.Prof.1994. Research Interests and Research Projects: Impact of ArF excimer laser irradiation (193nm) on bone and its photoacoustic injury on bone cells and pulp tissue. Identification and initial characterization of oncogene involvement in Odontogenic Tumors. The possible involvement of the human T uftelin gene in Amelogenesis Imperfecta. Mapping and cloning the gene in humans affected by Cleidocranial Dysplasia. Developing new surg i cal techniques and their impact of implant surgery. Recent publications Becker, A., Lustmann, J and Shteyer, A.: Cleidocranial dysplasia: part 1 - General principles of orthodontic and surgical treatment modality. Am. J. Orthod. Dentofac. Orthop. 111:28-33, 1997 Becker, A. Shteyer, A, Bimstein, E. and Lustmann, J: Cleidocranial dysplasia: part 2 - a treatment protocol for orthodontic and surgical modality. Am. J. Orthod. Dentofac. Orthop. 111:173-183, 1997. Deutsh, D. Fermon, E., Lustmann, J., Daphni, L. Mao, Z. Leytin, V. and Palomon, A. (1998). Tuftelin mRNA is expressed in human ameloblastoma tumor. Connect.Tiss. Res. 39(1-3): 177-184.
Otology & Neurotology - UserLogin Hearing Loss as a Presenting Symptom of cleidocranial dysplasia ObjectivesTo report two cases of cleidocranial dysplasia in which hearing loss was the http://otology-neurotology.com/pt/re/otoneuroto/fulltext.00129492-200111000-0002
Bartlett, John Beniash, Elia Campos-Neto, Antonio Chen, Tsute cleidocranial dysplasia, a condition characterized by delayed suture ossificationin the skull, supernumerary teeth, and missing clavicles, was found to be http://www.forsyth.org/forsyth.asp?pg=100168
