61. The Laryngoscope - Abstract: Volume 113(9) September 2003 P 1508-1514 Otolaryngo Otolaryngological Manifestations of cleidocranial dysplasia, Objectives/Hypothesiscleidocranial dysplasia is an autosomal dominant skeletal syndrome http://www.laryngoscope.com/pt/re/laryngoscope/abstract.00005537-200309000-00017

LWWOnline LOGIN eALERTS REGISTER ... Publish Ahead of Print Otolaryngological Manifestations... ARTICLE LINKS: Fulltext PDF (510 K) Otolaryngological Manifestations of Cleidocranial Dysplasia, Concentrating on Audiological Findings. Laryngoscope. 113(9):1508-1514, September 2003. Visosky, Ann Marie B. MD; Johnson, Jacob MD; Bingea, Becky MA; Gurney, Theresa MD; Lalwani, Anil K. MD Abstract: 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.

62. Article : Scheuthauer-Marie-Sainton Syndrome - A Rare Entity Imaging Findings ; Keywords Skeletal dysplasia, ScheuthauerMarie-Sainton Syndrome A naturalhistory of cleidocranial dysplasia. Am. J. Med. Genet. 2001; 104 1-6. http://www.ijri.org/articles/ARCHIVES/2004-14-2/musculoskeletal173.htm

Musculoskeletal Scheuthauer-Marie-Sainton Syndrome - A Rare Entity Imaging Findings SK VERMA, P JAIN, NC SHARMA Ind J Radiol Imag 2004 14:2:173-174 Keywords : Skeletal dysplasia, Scheuthauer-Marie-Sainton Syndrome 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]. We report imaging findings in a patient with CCD. However, a familial occurance could not be documented in this case. CASE REPORT 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.

63. 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

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Cleidocranial Dysplasia Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report 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

64. 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-

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65. 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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66. Missense Mutations Abolishing DNA Binding Of The Osteoblast-specific Transcripti cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion http://www.nature.com/ng/journal/v16/n3/abs/ng0797-307.html

@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 Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor in cleidocranial dysplasia 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

67. 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

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).

68. Genetic Mutations In Certain Head And Neck Conditions Of Interest To The Dentist cleidocranial dysplasia, previously known as cleidocranial dysostosis, For example, Narahara and others14 observed cleidocranial dysplasia in http://www.cda-adc.ca/jcda/vol-67/issue-10/594.html

Genetic Mutations in Certain Head and Neck Conditions of Interest to the Dentist George K.B. Sàndor, MD, DDS, FRCDC, FRCSC, FACS • Robert P. Carmichael , DMD, MSc, MRCDC • Loris Coraza , BSc, DDS • Cameron M.L. Clokie , DDS, PhD, FRCDC • Richard C.K. Jordan , DDS, PhD, FRCDC • Abstract This article identifies certain syndromes of the head and neck, which a dentist may see in clinical practice, and relates these syndromes to their sites of mutation on involved genes. This paper is timely with the near completion of the Human Genome Project, the mapping of the entire human genetic material. Knowing the site of the genetic lesion is important in helping clinicians understand the genetic basis for these conditions, and may help in our future understanding of remedies and treatments. MeSH Key Words: craniofacial abnormalities/genetics; human; genome; mutation © J Can Dent Assoc 2001; 67:(10)594 This article has been peer reviewed. T he basis of many diseases is the accidental alteration of DNA. Genetic mutations, or alterations in an individual’s genome, can be inherited, affecting cells that perpetually divide (germ-line mutations), or they can occur at any point during a person’s life (somatic mutations). Certain mutations exert a wide spectrum of effects, ranging from absence or alteration of protein or tissue factor synthesis to structural changes. To understand these alterations, an understanding of the intact genetic code is required. The most widely known and important attempt to decipher the human genetic code has been the Human Genome Project (

69. Standard Views - DIAGNOSIS OF CONGENITAL ABNORMALITIES-THE 18-23 WEEKS SCAN Hypophosphatasia; Dyssegmental dysplasia; cleidocranial dysplasia Osteogenesis imperfecta; cleidocranial dysplasia; Hypophosphatasia http://www.centrus.com.br/DiplomaFMF/SeriesFMF/18-23-weeks/appendix-02/appendix-

Standard Views Handbook of Fetal Abnormalities Algorithm Appendix ANTENATAL SONOGRAPHIC FINDINGS IN SKELETAL DYSPLASIAS Type of limb shortening Rhizomelia Thanatophoric dysplasia Atelosteogenesis Chondrodysplasia punctata (rhizomelic type) Diastrophic dysplasia Congenital short femur Achondroplasia Mesomelia Mesomelic dysplasia COVESDEM association Acromelia Ellis-Van Creveld syndrome Micromelia Achondrogenesis Atelosteogenesis Diastrophic dysplasia Fibrochondrogenesis Osteogenesis imperfecta (type II) Kniest dysplasia Dyssegmental dysplasia Altered thoracic dimensions Long narrow thorax Asphyxiating thoracic dysplasia Ellis Van Creveld syndrome Metatropic dysplasia Fibrochondrogenesis Atelosteogenesis Campomelic dysplasia Jarcho-Levin syndrome Achondrogenesis Hypophosphatasia Dyssegmental dysplasia Cleidocranial dysplasia Short thorax Osteogenesis imperfecta (type II) Kniest’s dysplasia Pena-Shokeir syndrome Hypoplastic thorax Thanatophoric dysplasia Cerebro-costo-mandibular syndrome Cleidocranial dysostosis syndrome Homozygous achondroplasia Melnick-Needles syndrome (osteodysplasty) Fibrochondrogenesis Otopalatodigital syndrome (type II) Hand and foot abnormalities Postaxial polydactyly Chondroectodermal dysplasia Short rib-polydactyly syndrome (type I, type III)

70. Penn State Faculty Research Expertise Database (FRED) , A rare autosomal dominant condition inwhich there is Dysostoses, Cleidocranial, Dysplasia, Cleidocranial......cleidocranial dysplasia. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D002973

71. 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

NEONATAL QUIZ NO 17. ANSWER Clinical features observed : * Brachycephaly * Head bossing * Parietal bones not palpable * Wide metopic suture * Nasal bridge depressed * Hypertelorism Radiological features are as follow : * Brachycephaly * Parietal bones unossified * Occipital bones partially ossified * Clavicles absent The diagnosis : CLEIDOCRANIAL DYSPLASIA (DYSOSTOSIS) This disease is a hereditary disorder affecting bones that develop by intra-membranous formation, i.e. the clavicles and the calvarial bones. Quiz 18 Return Quiz Index Research

72. 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

Treatment of a Patient with Cleidocranial Dysplasia Using Osseointegrated Implants: A Patient Report Vicki C. Petropoulos, DMD, MS/Thomas J. Balshi, DDS/Stephen F. Balshi, BBE/Glenn J. Wolfinger, DMD 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 More Information ... Write Us to Request Information or Ask a Dental Question To make an appointment for an evaluation, call:

73. 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

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2005;42:373-375 Yunis Varon Syndrome Sameer Bhatia R.G. Holla rgh1@sify.com Manuscript received: December 4, 2003; Initial review completed: January 23, 2004; Revision accepted: November 16, 2004. Abstract: 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.

74. Progressive Development Of Supernumerary Teeth In Cleidocranial Dysplasia -- Fra A 9year-old boy suffering from cleidocranial dysplasia presented with multipleunerupted permanent teeth and five unerupted supernumerary teeth. http://jorthod.maneyjournals.org/cgi/content/abstract/16/2/103

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: 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. ARTICLES Progressive development of supernumerary teeth in cleidocranial dysplasia 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.

75. 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

76. *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

77. 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

Home About Departments Medical Services Clinics Nursing profession ... Publications International Patient Contact Home Hadassah Doctors Hadassah Doctors 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.

78. Conditions And Diseases/Rare Disorders/Cleidocranial Dysplasia Conditions and Diseases/Rare Disorders/cleidocranial dysplasia healthboard. http://www.healthboard.com/websites/Conditions_and_Diseases/Rare_Disorders/Cleid

Health Board Conditions and Diseases/Rare Disorders/Cleidocranial Dysplasia Search Health Board Directories the entire directory only this category More search options Home Conditions and Diseases Rare Disorders : Cleidocranial Dysplasia LINKS: A Natural History of Cleidocranial Dysplasia An article from Baylor College of Medicine. http://www.faseb.org/genetics/ashg99/f181.htm Cleidocranial Dysplasia Information about this rare genetic disorder, studies and a chat room. http://cleidocranial_dysplasia.homestead.com/page1.html MedicineNet.com: Cleidocranial Dysplasia Basic information. National Library of Medicine: Cleidocranial Dysplasia (CCD, CLCD) A list of synonyms, summary and major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome233.html HOME NEW LINKS COOL LINKS NEWSLETTER ... HealthBoard.com

79. 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

LWWOnline LOGIN eALERTS REGISTER ... Archive You are attempting to access protected content. To access this content please login using an established account or create/activate an account. If you have already created/ activated an online account, please login below: User Name: Password: Note: passwords are CASE SENSITIVE If you are a new user or guest visiting an LWWonline site for the first time, please complete the new account setup process to view or purchase content. Forgot your password? Subscribe Renewal Information Subscribe to RSS feed utrdc-pt02 Release 4.0

80. 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

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