ICD-10 Case Ascertainment Code List with Description (04/18/17)
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Advances in the Pathogenesis and Possible Treatments for Multiple Hereditary Exostoses from the 2016 International MHE Conference
Connective Tissue Research ISSN: 0300-8207 (Print) 1607-8438 (Online) Journal homepage: https://www.tandfonline.com/loi/icts20 Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference Anne Q. Phan, Maurizio Pacifici & Jeffrey D. Esko To cite this article: Anne Q. Phan, Maurizio Pacifici & Jeffrey D. Esko (2018) Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference, Connective Tissue Research, 59:1, 85-98, DOI: 10.1080/03008207.2017.1394295 To link to this article: https://doi.org/10.1080/03008207.2017.1394295 Published online: 03 Nov 2017. Submit your article to this journal Article views: 323 View related articles View Crossmark data Citing articles: 1 View citing articles Full Terms & Conditions of access and use can be found at https://www.tandfonline.com/action/journalInformation?journalCode=icts20 CONNECTIVE TISSUE RESEARCH 2018, VOL. 59, NO. 1, 85–98 https://doi.org/10.1080/03008207.2017.1394295 PROCEEDINGS Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference Anne Q. Phana, Maurizio Pacificib, and Jeffrey D. Eskoa aDepartment of Cellular and Molecular Medicine, Glycobiology Research and Training Center, University of California, San Diego, La Jolla, CA, USA; bTranslational Research Program in Pediatric Orthopaedics, Division of Orthopaedic Surgery, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA ABSTRACT KEYWORDS Multiple hereditary exostoses (MHE) is an autosomal dominant disorder that affects about 1 in 50,000 Multiple hereditary children worldwide. MHE, also known as hereditary multiple exostoses (HME) or multiple osteochon- exostoses; multiple dromas (MO), is characterized by cartilage-capped outgrowths called osteochondromas that develop osteochondromas; EXT1; adjacent to the growth plates of skeletal elements in young patients. -
Exostoses, Enchondromatosis and Metachondromatosis; Diagnosis and Management
Acta Orthop. Belg., 2016, 82, 102-105 ORIGINAL STUDY Exostoses, enchondromatosis and metachondromatosis; diagnosis and management John MCFARLANE, Tim KNIGHT, Anubha SINHA, Trevor COLE, Nigel KIELY, Rob FREEMAN From the Department of Orthopaedics, Robert Jones Agnes Hunt Hospital, Oswestry, UK We describe a 5 years old girl who presented to the region of long bones and are composed of a carti- multidisciplinary skeletal dysplasia clinic following lage lump outside the bone which may be peduncu- excision of two bony lumps from her fingers. Based on lated or sessile, the knee is the most common clinical examination, radiolographs and histological site (1,10). An isolated exostosis is a common inci- results an initial diagnosis of hereditary multiple dental finding rarely requiring treatment. Disorders exostosis (HME) was made. Four years later she developed further lumps which had the radiological associated with exostoses include HME, Langer- appearance of enchondromas. The appearance of Giedion syndrome, Gardner syndrome and meta- both exostoses and enchondromas suggested a possi- chondromatosis. ble diagnosis of metachondromatosis. Genetic testing Enchondroma are the second most common be- revealed a splice site mutation at the end of exon 11 on nign bone tumour characterised by the formation of the PTPN11 gene, confirming the diagnosis of meta- hyaline cartilage in the medulla of a bone. It occurs chondromatosis. While both single or multiple exosto- most frequently in the hand (60%) and then the feet. ses and enchondromas occur relatively commonly on The typical radiological features are of a well- their own, the appearance of multiple exostoses and defined lucent defect with endosteal scalloping and enchondromas together is rare and should raise the differential diagnosis of metachondromatosis. -
Massachusetts Birth Defects 2002-2003
Massachusetts Birth Defects 2002-2003 Massachusetts Birth Defects Monitoring Program Bureau of Family Health and Nutrition Massachusetts Department of Public Health January 2008 Massachusetts Birth Defects 2002-2003 Deval L. Patrick, Governor Timothy P. Murray, Lieutenant Governor JudyAnn Bigby, MD, Secretary, Executive Office of Health and Human Services John Auerbach, Commissioner, Massachusetts Department of Public Health Sally Fogerty, Director, Bureau of Family Health and Nutrition Marlene Anderka, Director, Massachusetts Center for Birth Defects Research and Prevention Linda Casey, Administrative Director, Massachusetts Center for Birth Defects Research and Prevention Cathleen Higgins, Birth Defects Surveillance Coordinator Massachusetts Department of Public Health 617-624-5510 January 2008 Acknowledgements This report was prepared by the staff of the Massachusetts Center for Birth Defects Research and Prevention (MCBDRP) including: Marlene Anderka, Linda Baptiste, Elizabeth Bingay, Joe Burgio, Linda Casey, Xiangmei Gu, Cathleen Higgins, Angela Lin, Rebecca Lovering, and Na Wang. Data in this report have been collected through the efforts of the field staff of the MCBDRP including: Roberta Aucoin, Dorothy Cichonski, Daniel Sexton, Marie-Noel Westgate and Susan Winship. We would like to acknowledge the following individuals for their time and commitment to supporting our efforts in improving the MCBDRP. Lewis Holmes, MD, Massachusetts General Hospital Carol Louik, ScD, Slone Epidemiology Center, Boston University Allen Mitchell, -
(Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation
Enchondromatosis (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation p.R150C Bovée, J.V.M.G.; Rozeman, L.B.; Sangiorgi, L.; Briaire-de Bruijn, I.H.; Mainil-Varlet, P.; Bertoni, F.; ... ; Hogendoorn, P.C.W. Citation Bovée, J. V. M. G., Rozeman, L. B., Sangiorgi, L., Briaire-de Bruijn, I. H., Mainil-Varlet, P., Bertoni, F., … Hogendoorn, P. C. W. (2004). Enchondromatosis (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation p.R150C. Human Mutation, 24, 466-473. Retrieved from https://hdl.handle.net/1887/8144 Version: Not Applicable (or Unknown) License: Downloaded from: https://hdl.handle.net/1887/8144 Note: To cite this publication please use the final published version (if applicable). HUMAN MUTATION 24:466^473 (2004) RAPID COMMUNICATION Enchondromatosis (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation p.R150C Leida B. Rozeman,1 Luca Sangiorgi,2 Inge H. Briaire-de Bruijn,1 Pierre Mainil-Varlet,3 F. Bertoni,4 Anne Marie Cleton-Jansen,1 Pancras C.W. Hogendoorn,1 and Judith V.M.G. Bove´e1* 1Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands; 2Laboratory of Oncology Research, Rizzoli Orthopedic Institute, Bologna, Italy; 3Institute of Pathology, University of Bern, Bern, Switzerland; 4Department of Pathology, Rizzoli Orthopedic Institute, Bologna, Italy Communicated by Arnold Munnich Enchondromatosis (Ollier disease, Maffucci syndrome) is a rare developmental disorder characterized by multiple enchondromas. Not much is known about its molecular genetic background. Recently, an activating mutation in the parathyroid hormone receptor type 1 (PTHR1) gene, c.448C>T (p.R150C), was reported in two of six patients with enchondromatosis. -
Evolution of Morphology: Modifications to Size and Pattern
Evolution of Morphology: Modifications to Size and Pattern The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters Citation Uygur, Aysu N. 2014. Evolution of Morphology: Modifications to Size and Pattern. Doctoral dissertation, Harvard University. Citable link http://nrs.harvard.edu/urn-3:HUL.InstRepos:12274611 Terms of Use This article was downloaded from Harvard University’s DASH repository, and is made available under the terms and conditions applicable to Other Posted Material, as set forth at http:// nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of- use#LAA Evolution of Morphology: Modifications to Size and Pattern A dissertation presented by Aysu N. Uygur to The Division of Medical Sciences in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the subject of Genetics Harvard University Cambridge, Massachusetts May, 2014 iii © 2014 by Aysu N. Uygur All Rights Reserved iv Dissertation Advisor: Dr. Clifford J. Tabin Aysu N. Uygur Evolution of Morphology: Modifications to Size and Pattern Abstract A remarkable property of developing organisms is the consistency and robustness within the formation of the body plan. In many animals, morphological pattern formation is orchestrated by conserved signaling pathways, through a process of strict spatio-temporal regulation of cell fate specification. Although morphological patterns have been the focus of both classical and recent studies, little is known about how this robust process is modified throughout evolution to accomodate different morphological adaptations. In this dissertation, I first examine how morphological patterns are conserved throughout the enourmous diversity of size in animal kingdom. -
Resection of Cervical Juxtacortical Chondroma and Circumferential Spinal Stabilization for Kyphotic Deformity
Open Access Case Report DOI: 10.7759/cureus.4523 Resection of Cervical Juxtacortical Chondroma and Circumferential Spinal Stabilization for Kyphotic Deformity J. Manuel Sarmiento 1 , Omar Medina 2 , Angelique Sao-Mai S. Do 1 , Shimon Farber 3 , Ray M. Chu 1 1. Neurosurgery, Cedars-Sinai Medical Center, Los Angeles, USA 2. Orthopedic Surgery, Harbor-University of California Los Angeles Medical Center, Los Angeles, USA 3. Pathology, Cedars-Sinai Medical Center, Los Angeles, USA Corresponding author: J. Manuel Sarmiento, [email protected] Abstract Chondromas are rare, benign tumors composed of cartilaginous tissue that mainly affect the metaphases of long tubular bones. Juxtacortical (periosteal) chondromas arise from the surface of periosteum and rarely affect the cervical spine. We present a patient with a spinal juxtacortical chondroma causing spinal cord compression and a cervical deformity treated with surgical resection and circumferential spinal fixation and stabilization. A 55-year-old female with past medical history of Crohn’s disease with years of neck pain, balance issues, and left upper extremity radicular symptoms. Cervical spine x-rays show kyphosis with an apex at C5, degenerative changes of the endplates and facet joints, and grade 2 anterolisthesis C4 on C5 with no abnormal motion with flexion/extension. MRI showed a left sided C5-6 extramedullary mass measuring 11 x 11 x 15 mm causing spinal cord compression and neural foraminal narrowing. Her pain is worsening and refractory to physical therapy, gabapentin and methocarbamol. A C4-5 & C5-6 anterior cervical discectomy and fusion, C4-5 & C5-6 laminectomy for tumor resection, and C4-5 & C5-6 posterior fusion with instrumentation was performed. -
Orphanet Journal of Rare Diseases Biomed Central
Orphanet Journal of Rare Diseases BioMed Central Review Open Access Ollier disease Caroline Silve*1 and Harald Jüppner2 Address: 1INSERM U. 773, Faculté de Médecine Xavier Bichat, 16 rue Henri Huchard, 75018 Paris, France and 2Endocrine Unit, Department of Medicine, and Pediatric Neprology Unit, MassGeneral Hospital for Children, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA Email: Caroline Silve* - [email protected]; Harald Jüppner - [email protected] * Corresponding author Published: 22 September 2006 Received: 31 July 2006 Accepted: 22 September 2006 Orphanet Journal of Rare Diseases 2006, 1:37 doi:10.1186/1750-1172-1-37 This article is available from: http://www.OJRD.com/content/1/1/37 © 2006 Silve and Jüppner; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis also known as Ollier disease (WHO terminology). The estimated prevalence of Ollier disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier disease is characterized by an asymmetric distribution of cartilage lesions and these can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery). Clinical problems caused by enchondromas include skeletal deformities, limb-length discrepancy, and the potential risk for malignant change to chondrosarcoma. -
Pitfalls of Genetic Counselling in Pfeiffer's Syndrome
J Med Genet: first published as 10.1136/jmg.17.4.250 on 1 August 1980. Downloaded from Journal ofMedical Genetics, 1980, 17, 250-256 Pitfalls of genetic counselling in Pfeiffer's syndrome M BARAITSER,* MARY BOWEN-BRAVERY, AND P SALDANA-GARCIA From the Kennedv-Galton Centre for Clinical Genetics, Harperbury Hospital, Harper Lane, Shenley, Radlett, Herts WD7 9HQ SUMMARY A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosynd:ctyfy syndrome. The acrocephalosyndactyly syndromes are a group a fourth entity with features of both Apert's and of hereditary disorders which manifest with anoma- Crouzon's syndrome.' The acrocephalic syndrome of lies of the cranium, hands, and feet. As with other Carpenter can be distinguished because of the dominantly inherited syndromes the clinical picture presence ofpolydactyly.2 Others have documented the varies considerably and this has led to conflicting presence of Apert's, Pfeiffer's, and transitional views about the classification of the acrocephalies. syndromes in multiple generations of the same family Most authors recognise Apert's, Pfeiffer's and suggesting that the subdivision is spurious.3-5 The Chotzen's syndromes and there is uncertainty about variable expression and improvement of the cranio- facial deformities with age has also led to difficulties *Also at the Division of Inherited Metabolic Diseases, in detecting minimal manifestations, thereby in- Clinical Research Centre, Northwick Park Hospital, Watford creasing the possibility of missing gene carriers and Road, Harrow, Middlesex HAl 3UJ. -
The Physis: Fundamental Knowledge to a Fantastic Future Through Research
Special Contribution The Physis: Fundamental Knowledge to a Fantastic Future Through Research Proceedings of the AAOS/ORS Symposium Written By: Matthew A. Halanski, MD and Maegen J. Wallace, MD; Children’s Hospital & Medical Center, Omaha, NE Contributors: Ernestina Schipani, MD, PhD; Henry Kronenberg, MD; Rosa Serra, PhD; Ola Nilsson, MD, PhD; Klane White, MD; Michael Bober, MD; Benjamin Alman, MD; Daniel Hoernschemeyer, MD; Francesco De Luca, MD; Jan-Maarten Wit, MD, PhD; Ken Noonan, MD; Neil Paloian, MD; David Deyle, MD; Shawn Gilbert, MD; Sanjeev Sabharwal, MD; Peter Stevens, MD; Jonathan Schoenecker, MD, PhD; Noelle Larson, MD; Todd Milbrandt, MD; Wan-Ju Li, PhD Introduction A proposal to the AAOS on behalf of the POSNA Education Committee (Chair Ken Noonan, MD), the AAOS, ORS, and NIH via an R13 grant mechanism, was supported to conduct a multidisciplinary symposium that discussed the current understanding of the growth plate, its pathology, state-of-the-art treatments, and future research directions. Never before on U.S. soil has an event like this transpired. The symposium was chaired by Drs. Matthew A. Halanski and Todd Milbrandt. The goals of the symposium were to: 1. Educate attendees on the current multidisciplinary knowledge of normal bone growth and development 2. Highlight various causes of abnormal growth and discuss available treatments and future possibilities 3. Identify key areas of focused research and establish multidisciplinary collaborations In addition to formal didactic sessions, interactive discussions and networking opportunities were provided to allow cross pollination and collaborations between orthopaedic surgeons and other experts. More than 20 basic science and clinical faculty with expertise in biomedical engineering, cellular biology, developmental biology, endocrinology, genetics and gene therapy, molecular biology, nephrology, orthopaedic surgery, pediatrics, and stem cell technology, participated in the event. -
Life Is Full of Miracles by Jeannie Ewing Director Retreat Sponsors
THIS ISSUE OF THE CCA NETWORK IS DEDICATED IN MEMORY OF ASHLEY BARCROFT & PHOENIX COLEMAN ccanewsletter of the children’s craniofacialnetwork association Cher—national spokesperson 2014: Issue 2 inside cca kid ian bibler . 2 cca adult jessica barbalaci . 3 cca supersib eli bibler . 4 morgan meck’s match play . 5, 14 horseheads, ny . 10 all the way for cca . 11 message testimonial . 12 calendar of events . 12 from the ucf: awareness for program social change . 13 life is full of miracles By Jeannie Ewing director retreat sponsors . 15 wonder t-shirts . 15 arah has always been somewhat of a medical marvel; an you believe the sadie’s night seven the events leading up to and surrounding her cretreat is already over? at the ball park . 18 birth have left many people at the very least speechless Time sure does fly when stormbringer for and more often riveted and enraptured by her little life you are having fun! The stephanie sumpter . 19 that is still unfolding each day . She was born with Apert 24th Annual Cher’s Family craniofacial acceptance syndrome, but, like most parents who have children with Retreat was held in St . Louis, month . 19 varying forms of craniosynostosis, we were oblivious to Missouri June 26th through any sort of red flags concerning her development, at least state assistance . .. 19 29th, and was officially the prenatally . largest retreat to date! more fundraising news . 20 I quickly dismissed the idea of prenatal testing when given One hundred thirteen how to raise funds the opportunity by my family doctor during one of my later families attended from for cca . -
Genetic Study of Congenital Heart Defects In
8585 JMed Genet 1994;31:858-863 Genetic study of congenital heart defects in Northern Ireland (19741978) J Med Genet: first published as 10.1136/jmg.31.11.858 on 1 November 1994. Downloaded from E Jennifer Hanna, Norman C Nevin, John Nelson Abstract echocardiography, have been able to diagnose Congenital heart defects are a major con- lesions more accurately by non-invasive means. genital abnormality and are assuming The aim of this study, which allowed a follow increasing importance. A study was up period of 6 to 10 years (1979-1984), was to undertaken to estimate the incidence of obtain an accurate estimate of the incidence of congenital heart defects in Northern CHD in Northern Ireland. It included the total Ireland over a five year period (1974-1978), live- and stillbirth population over a five year to determine the age at diagnosis and to period (1974-1978) but unfortunately echocar- assess the risk of recurrence in sibs. An diography was not available for all patients incidence rate of 7-3 per 1000 total births during the period of study. was found. This reduced to 3-1 per 1000 Previous studies346"' 1-14 have shown a recur- total births if only invasive methods of rence risk in sibs varying from 1 4% to 3 4%. diagnosis (catheter studies, surgery, or To ascertain the recurrence risk in Northern necropsy) were considered. The overall Ireland, selected families identified by the risk of recurrence for sibs (excluding in- incidence study were examined in greater de- dex patients with chromosomal abnor- tail. In addition it was decided to look at the age malities and syndromes) was 3-1%. -
Teratology Primer Birth Defects Research LOGY SO to C a IE R T
Teratology Primer Birth Defects Research LOGY SO TO C A IE R T E Y T B Education i r h t c h r a de se fects re Prevention Authors Teratology Primer Sura Alwan F. Clarke Fraser Department of Medical Genetics Professor Emeritus of Human Genetics University of British Columbia McGill University Vancouver, BC V6H 3N1 Canada Montreal, QC H3A 1B1 Canada E-mail: [email protected] E-mail: [email protected] Steven B. Bleyl Jan M. Friedman Department of Pediatrics University of British Columbia University of Utah School of Medicine C.201 BCCH-Shoughnessy Site Salt Lake City, UT 84132-0001 USA 4500 Oak Street E-mail: [email protected] Vancouver, BC V6H 3N1 Canada E-mail: [email protected] Robert L. Brent Thomas Jefferson University Adriane Fugh-Berman Alfred I. duPont Hospital for Children Department of Physiology and Biophysics P.O. Box 269 Georgetown University Medical Center Wilmington, DE 19899 USA Box 571460 E-mail: [email protected] Washington, DC 20057-1460 USA E-mail: [email protected] Christina D. Chambers Departments of Pediatrics and Family and John M. Graham, Jr. Preventive Medicine Director of Clinical Genetics and Dysmorphology University of California at San Diego Cedars Sinai Medical Center School of Medicine 8700 Beverly Blvd., PACT Suite 400 9500 Gilman Dr., Mail Code 0828 Los Angeles, CA 90048 USA La Jolla, CA 92093-0828 USA E-mail: [email protected] E-mail: [email protected] Barbara F. Hales* George P. Daston Department Pharmacology and Therapeutics Procter & Gamble Company McGill University Miami Valley Laboratories 3655 Prom.