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DTSTART:20271107T060000
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END:VTIMEZONE
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20260309T080000
DTEND;TZID=America/New_York:20260316T170000
DTSTAMP:20260521T152712
CREATED:20260220T042209Z
LAST-MODIFIED:20260220T135411Z
UID:10000023-1773043200-1773680400@jpe.9a0.myftpupload.com
SUMMARY:Master Class in Skeletal Dysplasias
DESCRIPTION:ERN BOND
URL:https://ernbond.eu/2025/10/14/8122/#new_tab
CATEGORIES:Upcoming Events
ATTACH;FMTTYPE=image/png:https://jpe.9a0.myftpupload.com/wp-content/uploads/2026/02/image-1.png
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20260219T080000
DTEND;TZID=America/New_York:20260219T170000
DTSTAMP:20260521T152712
CREATED:20260220T032346Z
LAST-MODIFIED:20260220T135433Z
UID:10000021-1771488000-1771520400@jpe.9a0.myftpupload.com
SUMMARY:Skeletal Dysplasia Course
DESCRIPTION:16th Introductory Skeletal Dysplasias Course: Apply now
URL:https://ern-ithaca.eu/events-news/news/16th-introductory-skeletal-dysplasias-course-apply-now/#new_tab
CATEGORIES:Upcoming Events
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20251017T080000
DTEND;TZID=America/New_York:20251018T170000
DTSTAMP:20260521T152712
CREATED:20251019T032402Z
LAST-MODIFIED:20260220T042613Z
UID:10000024-1760688000-1760806800@jpe.9a0.myftpupload.com
SUMMARY:2025 Annual Meeting of the Skeletal Dysplasia Management Consortium
DESCRIPTION:
URL:https://www.skeletaldysplasia.org/course
ATTACH;FMTTYPE=image/png:https://jpe.9a0.myftpupload.com/wp-content/uploads/2026/02/image-2.png
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20240920T080000
DTEND;TZID=America/New_York:20240920T170000
DTSTAMP:20260521T152712
CREATED:20240920T125735Z
LAST-MODIFIED:20260220T135535Z
UID:10000012-1726819200-1726851600@jpe.9a0.myftpupload.com
SUMMARY:ISDS 16th Meeting 2024
DESCRIPTION:Organized by Karen Heath & Sergio Sousa \nView 2024 Photo Gallery\nAgenda \n\nActivity report\nTreasurer´s report\nApproval of the activity report and accountancy\nThe future of ISDS.\n\nExecutive committee\nBylaws\nStanding committees – future aims and tasks\n\n\nVenue and dates for the next ISDS meeting – presentations of proposals.\nAny other issues?\n\nISDS24Madrid Account report (pdf)\nISDS2024Madrid Business meeting Final 2024 (pptx)\nISDS2024Madrid program and abstract book (pdf)\nISDS2025Madrid abstract book (pdf) \n 
URL:https://jpe.9a0.myftpupload.com/event/isds-16th-meeting-2024/
LOCATION:NH Eurobuilding Hotel\, Calle del Padre Damián\, 23\, Chamartín\, Madrid\, 28036\, Spain
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2024/09/ISDS2024GroupPhoto.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20220824T080000
DTEND;TZID=America/New_York:20220827T170000
DTSTAMP:20260521T152712
CREATED:20220824T131906Z
LAST-MODIFIED:20260220T044621Z
UID:10000013-1661328000-1661619600@jpe.9a0.myftpupload.com
SUMMARY:ISDS 15th Meeting 2022
DESCRIPTION:ISDS 2022 Chile Programme (pdf)
URL:https://jpe.9a0.myftpupload.com/event/isds-15th-meeting-2022/
LOCATION:Hotel Best Western Premier Marina Las Condes\, Alonso de Córdova 5727\, Santiago\, Las Condes\, Región Metropolitana\, 7560927\, Chile
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2022/08/ISDS2022GroupPhoto1.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20190210T080000
DTEND;TZID=America/New_York:20190212T170000
DTSTAMP:20260521T152712
CREATED:20190911T121609Z
LAST-MODIFIED:20260219T194942Z
UID:10000011-1549785600-1549990800@jpe.9a0.myftpupload.com
SUMMARY:ISDS 14th Meeting 2019
DESCRIPTION:Sponsorship Document ISDS \nView 2019 Photo Gallery\n  \nPDF galleries from the Oslo meeting:\nOslo meeting_general pictures (zip)\nIn and around conference and posters (pdf)\nSocial Dinner – Outdoors at Holmenkollen (pdf)\nSocial Dinner – Indoors before the dancing (pdf)
URL:https://jpe.9a0.myftpupload.com/event/isds-8th-meeting-2019/
LOCATION:Hotel Bristol\, Kristian IVs gate 7\, Oslo\, 0164\, Norway
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2019/09/ISDS2019GroupPhoto.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20170920T080000
DTEND;TZID=America/New_York:20170923T170000
DTSTAMP:20260521T152712
CREATED:20170920T132508Z
LAST-MODIFIED:20260220T045713Z
UID:10000015-1505894400-1506186000@jpe.9a0.myftpupload.com
SUMMARY:ISDS 13th Meeting 2017
DESCRIPTION:Sponsored by Geert Mortier and Wim Van Hul\nCo-chairs of the 13th ISDS meeting \nPreliminary Programme 2017 \nView 2017 Photo Gallery \n 
URL:https://jpe.9a0.myftpupload.com/event/isds-13th-meeting-2017/
LOCATION:Old St John Congress and Event Centre\, Mariastraat 38\, Brugge\, 8000\, Belgium
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2017/09/ISDS2017GroupPhoto.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20150209T080000
DTEND;TZID=America/New_York:20150209T170000
DTSTAMP:20260521T152712
CREATED:20150210T040106Z
LAST-MODIFIED:20260219T195610Z
UID:10000009-1423468800-1423501200@jpe.9a0.myftpupload.com
SUMMARY:ISDS 12th Meeting 2015
DESCRIPTION:
URL:https://jpe.9a0.myftpupload.com/event/isds-12th-meeting-2015/
LOCATION:Istanbul\, Turkey
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2009/07/ISDS_NewsPlaceholder.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20130828T080000
DTEND;TZID=America/New_York:20130831T170000
DTSTAMP:20260521T152712
CREATED:20130814T030010Z
LAST-MODIFIED:20260219T195938Z
UID:10000008-1377676800-1377968400@jpe.9a0.myftpupload.com
SUMMARY:ISDS 11th Meeting 2013
DESCRIPTION:Organized by Luca Sangiorgi
URL:https://jpe.9a0.myftpupload.com/event/isds-11th-meeting-2013/
LOCATION:Bologna\, Bologna\, Italy
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2009/07/ISDS_NewsPlaceholder.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20110624T080000
DTEND;TZID=America/New_York:20110626T170000
DTSTAMP:20260521T152712
CREATED:20110625T025809Z
LAST-MODIFIED:20260215T011535Z
UID:10000007-1308902400-1309107600@jpe.9a0.myftpupload.com
SUMMARY:ISDS 10th Meeting 2011
DESCRIPTION:Organized by Prof Ravi Savarirayan and Robin Forbes \nPerth Program Abstract Book \nView 2011 Photo Gallery
URL:https://jpe.9a0.myftpupload.com/event/isds-10th-meeting-2011/
LOCATION:Sea Temple Resort in Palm Cove Cairns\, 5 Triton Street\, Palm Cove\, Queensland\, 4879\, Australia
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2011/06/ISDS2011GroupPhoto.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20090716T080000
DTEND;TZID=America/New_York:20090719T170000
DTSTAMP:20260521T152712
CREATED:20090717T024754Z
LAST-MODIFIED:20260219T200104Z
UID:10000006-1247731200-1248022800@jpe.9a0.myftpupload.com
SUMMARY:ISDS 9th Meeting 2009
DESCRIPTION:Organized by Matt Warman \nMeeting Location:\nBoston Park Plaza\nHotel 50 Park Plaza at Arlington Street\nBoston\, MA 02116\, USA\nphone: +1 – 617-426-2000\nweb: www.bostonparkplaza.com \nOrganized by Matt Warman\nChildren’s Hospital Boston\n300 Longwood Avenue\nBoston\, MA 02115\, USA\nemail: ISDS2009@childrens.harvard.edu\nweb: www.isds.ch/Boston2009.html \nDownloads:\nMeeting Flyer\nPoster (large) / Poster (small)\nRegistration form\nAbstract Form\nSample Abstract \nSpecial talks:\nJuly 17: Clifford J. Tabin\, Ph.D.\, Chairman\, Department of Genetics\, Harvard Medical School\, Boston\, MA : “Development and evolution of the appendicular skeleton”\nJuly 18: David Altshuler\, M.D.\, Ph.D.\, Director\, Program in Medical and Population Genetics\, Broad Institute\, Cambridge\, MA: “Human genetic susceptibility to disease – HapMaps\, GWAS\, and 1000 Genomes” \n \n \n 
URL:https://jpe.9a0.myftpupload.com/event/isds-9th-meeting-2009/
LOCATION:Hotel 50 Park Plaza\, 50 Park Plaza\, Boston\, 02116\, United States
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2009/07/ISDS_NewsPlaceholder.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20090209T080000
DTEND;TZID=America/New_York:20090209T170000
DTSTAMP:20260521T152712
CREATED:20070720T024405Z
LAST-MODIFIED:20260219T200148Z
UID:10000005-1234166400-1234198800@jpe.9a0.myftpupload.com
SUMMARY:ISDS 8th Meeting 2007
DESCRIPTION:Organised by Valérie Cormier-Daire\, Martine LeMerrer and Laurence Legeai-Mallet \nAbstract Book and List of Participants (PDF) \nView 2007 Photo Gallery\nSCIENTIFIC PROGRAM \nThursday July 19\n13h30. Opening.\n15h-15H30\nWelcome and Introduction\nPierre Maroteaux : Toulouse-Lautrec\n15h30-16H45 NEW GENES\n15h30. GDF5 and OA – of Human and of Mouse.\nS. Ikegawa. Laboratory for Bone and Joint diseases\, SNP Research Center. Riken\, Japan\n15h45. Mutations in PLEKHM1 involved in vesicular transport in osteoclasts cause osteopetrosis. B. Perdu\, Department of Medical Genetics\, University and Hospital of Antwerp\, Antwerp\, Belgium\n16h00. Mutations in aggregan (AGC1) cause Dexter cattle chondrodysplasia.\nR. Savarirayan\, Murdoch Childrens Research Institute and University of Melbourne\, Melbourne\, Australia\n16h15. AGC1 gene missense mutation associated with familial osteochondritis dissecans and early osteoarthritis. E.L. Stattin\, Deparment of Medical Biosciences\, Medical and Clinical genetics\, Umea University\, Umea\, Sweden.\n16h30. Autosomal recessive hypophosphatemia caused by a homozygous mutation in DMP1. O. Mäkitie\, Hospital for Children and Adolescents\, University of Helsinki\, Helsinki\, Finland\n16h45-17h15 Break\n17h15-18h30 Late Breaking News\n17h15. Molecular pathology of Metaphyseal anadysplasia.\nE. Lausch\, Universitäts-Kinderklinik Mainz\, Mainz\, Germany\n17h30. Molecular basis of Ghosal syndrome.\nD. Genevieve\, Department of Genetics and INSERM U781\, Hôpital Necker-Enfants-Malades\, Paris-France\nEvening: Dinner Mairie d’Albi \n  \n***\nFriday July 20\n9h-10h15. Clinical delineation\n9h00. Skeletal dysplasia in the Vienna collection.\nP Beighton\, Faculty of Health Sciences\, University of Cape Town\, Cape Town\, South Africa\n9h10. The skeletal phenotype of Schimke immuno-osseous dysplasia.\nSF. Smithson \, Deparment of Clinical Genetics\, St Michael’s hospital\, Bristol\, UK\n9h20. The clinical and radiological phenotype of Shprinzen-Goldberg syndrome: five new cases. C. Hall\, Deparment of Radiology and Clinical Genetics\, Great Ormond Street Hospital\, London\, UK\n9h30. Defining disorders with Erlenmeyer Flask Bone Deformity.\nM A. Faden\, Medical Genetics Institute\, Cedars-Sinai Medical Center\, Los Angeles\, USA\n9H40. Towards a better delineation of Odontochondrodysplasia.\nA. Superti-Furga\, Ctr for Peds and Inst Hum Genet\, University of Freiburg\, Germany\n9h50. Detection of microdeletions in limb malformation syndromes: a microdeletion in thrombocytopenia-absent radius (TAR) syndrome with a unique type of inheritance resembling autosomal recessive inheritance.\nS. Mundlos\, Max-Planck-Institut für molekulare Genetik\, Berlin\, Germany\n10h00. Clinical and radiographic features of autosomal dominant brachyolmia.\nD.H. Cohn\, Cedars-Sinai Medical Center and David Geffen School of Medecine\, UCLA\, LA\, USA\n10h15-10h45 Break\n10h45-12h00. Vertebral segmentation\n10h45. Segmental patterning of the spine: from clocks to scoliosis.\nO. Pourquié\, Stowers Institute for Medical Research/Howard Hughes Medical Institute\, Kansas City\, Missouri\, USA\n11h45. A new classification system for congenital scoliosis and abnormal vertebral segmentation.\nP. Turnpenny\, Clinicals Genetics\, Royal Devon & Exeter Hospital\, Exeter\, UK\n12h00-12h45 Poster Session\n12h45-14h15 Lunch (Parc de Rochegude)\n14h15-16h30. Murine Models\n14h15. Growth plate characterization in TSP35/Col9 Knock-out mice.\nJ.T. Hecht\, University of Texas Health Science Center-Houston\, Houston\, TX\, USA\n14h30. Y367C mutation in mouse FGFR3 causes severe dwarfism by affecting both chondrogenesis and osteogenesis. S.Pannier\, Department of Genetics\, INSERM U781\, Hôpital Necker-Enfants-Malades\, Paris-France\n14h45. Bone phenotype in a mouse model of Diastrophic Dysplasia.\nB.Gualeni. Department of Biochemistry\, University of Pavia\, Italy\n15h00.Reduced cell proliferation and increased apoptosis are significant\npathological mechanisms in murine models of mild pseudoachondroplasia and\nmultiple epiphyseal dysplasia resulting from mutations in MATN3 and COMP.\nM. Briggs\, Wellcome Trust Centre for Cell-Matrix Research\, Faculty of Life Sciences\, University of Manchester\, UK\n15h15 Multiple roles of neurofibromin 1 in skeletal development and growth.\nS. Mundlos Max-Planck-Institut für molekulare Genetik\, Berlin\, Germany\n15h30 Defects in Filamin B produce a variety of skeletal defects.\nD. Krakow\, Medical Genetics Institute\, Cedars-Sinai Medical Center\, UCLA\, Los Angeles\, USA\n15h45 An inversion involving Sonic hedgehog (Shh) cis-regulatory enhancers is associated with malformations of the telencephalon and cranial sutures in the “Short digits” (Dsh) mouse. G. Schwabe\, Institute of Medical Genetics\, Berlin\, Germany\n16h00-16h30 break\n16h30-17h30 “Unknowns” Session\n17h30-18h30 ISDS DIAGNOSTIC COMPETITION\nEvening: Dinner Chateau de Mauriac \n***\nSaturday July 21\n8h30-10h30 Molecular Characterization\n8h30. Genotype and phenotype of Stickler syndrome caused by mutation in the COL2A1 gene. K.Hoornaert\, Center for Medical Genetics\, Ghent University Hospital\, Ghent\, Belgium.\n8h45. Genotype and phenotype correlation of POR mutations : phenotypic heterogeneity of Antley-Bixler syndrome. G. Nishimura\, Department of Radiology\, Tokyo Metropolitan Kiyose Children’s Hospital\, Japan\n9h00. SOX9\, Campomelic and Acampomelic Dysplasia : A molecular and clinical update. G. Scherer\, Institute of Human Genetics and Anthropology\, University of Freiburg\, Freiburg\, Germany\n9h15. An update on the spectrum of LEMD3 mutations in patients with osteopoikilosis\, Buschke-Ollendorff syndrome and melorheostosis.\nJ. Hellemans\, Center for Medical Genetics\, Ghent University Hospital\, Ghent\, Belgium.\n9h30. Genotype-Phenotype study in 240 MO patients.\nL. Sangiorgi\, Genetic Unit\, Rizzzoli Orthopaedic Institute. Italy\n9h45. The molecular genetics of Scheuermann disease.\nM. Irving\, Murdoch Children’s Research Institute\, Melbourne\, Australia\n10h00. Molecular analysis of CUL7 in 3M syndrome.\nC. Huber\, Department of Genetics\, INSERM U781\, Hôpital Necker-Enfants-Malades\, Paris-France\n10h15. Czech dysplasia metatarsal type : another type II collagen disorder.\nG. Mortier\, Center for Medical Genetics\, Ghent University Hospital\, Ghent\, Belgium.\n10h30-11h00 Brea (Tour de France)\n11h30-12h30 Poster Session 2\n12h30-14h00 lunch (Parc de Rochegude)\n14h00-16h15 Cellular-Molecular Characterization\n14h00. Countering excessive FGFR3 signals in achondroplasia.\nW Horton\, Shriners Hospital/ OHSU\, Portland\, USA\n14h30. Complexity of FGF signaling in chondrocytes. WR. Wilcox\, Medical Genetics Institute\, Cedars- Sinai Medical Center. Los Angeles\, USA\n14h45. Wisp1 is expressed during cartilage development. P. Kannu\, Skeletal Biology and Disease\, Murdoch Childrens Research Institute\, Melbourne. Australia\n15h00. New skeletal dysplasia candidate genes identified in a genome-scale analysis of cartilage-selective gene expression. D H Cohn\, Medical Genetics Institute\, Cedars- Sinai Medical Center\, UCLA. LA\, USA\n15h15. Consequences of chondrodysplasia-associated point mutations in collagen II at the structural and cellular level. F Zaucke\, Center for Biochemistry\, Medical faculty\, University of Cologne\, Cologne. Germany.\n15h30. Structural and functional characterisation of matrilin-3 and its implication for human chondrodysplasias. M. Fresquet\, Wellcome Trust centre for Cell-Matrix Research\, Faculty of Life Sciences\, University of Manchester\, Manchester\, UK\n15h45. High-definition imaging infrared micro-spectroscopy of cartilage in mice with normal and impaired diastrophic dysplasia sulfate transporter. E. L Mertz\, Section on Physical Biochemistry\, NICHD\, National Institutes of Health\, Bethesda \, USA\n16h00 Noggin mutations deregulate BMP signaling during limb devopment and lead to joint fusions and brachydactyly.\nP. Seemann\, Max-Planck-Institut für molekulare Genetik\, Berlin\, Germany.\n16h15-16h40 Break\n16h40-18h00 Management\n16h40. Orthopedic management of chondrodysplasias.\nG Finidori\, Service d’orthopédie infantile\, hôpital des Enfants Malades\, Paris\, France\n17h00. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia.\nD. Rimoin\, Cedars-Sinai Medical Center. Los Angeles\, CA\, USA\n17h15. The Restricted Growth Experience; Quality of Life and Barriers to Participation.\nM J Wright\, Institute of Human Genetics\, Newcastle University\, Newcastle upon Tyne\, UK\n17h30. Obstetrics and obstretical anesthesia issues in women with dwarfism.\nJ.E. Hoover-Fong\, McKusick-Nathans Institute of Genetic Medecine\, Johns Hopkins University\, Baltimore USA\n17h45. Open discussion- Guidelines : D.Rimoin \nCathedral (concert)\nToulouse Lautrec museum (visit and dinner)\n*** \nSunday July 22\n9h-10h30 –Clinical Characterization\n9h00. Angulated femurs and the skeletal dysplasias. Y Alanay. Clinical Genetics Unit\, Department of Pediatrics\, Faculty of Medecine\, Hacettepe Unversity\, Ankara\, Turkey\n9h10. Cerebro-osseous-digital syndrome-Clinical and radiological phenotype with histological findings.\nCM Hall\, Department of Radiology\, Great Ormond Street Hospital for Children\, London\, UK\n9h20. Delineation of a new syndrome with syn-/oligodactyly\, urogenital malformations and anal atresia. S.Unger\, Institute for Human Genetics\, University of Freiburg\, Germany.\n9h30. Complex skeletal phenotype in a patient with a double insertional translocation between 7q and 10q and deletion of the TRPS1 gene on 8q24. R.Mendoza\, Division of Clinical and Metabolic Genetics\, Hospital for Sick Children\, Toronto\, Canada\n9h40. Adams-Oliver syndrome: clinical variability in a four-generation family.\nC. A. Bacino. Deparment of Molecular and Human Genetics\, Baylor College of Medecine\, Houston\, USA\n9h50. Foetal translucent bones associated with massive perivillous fibrin deposition in the placenta (gitterinfarct/ maternal floor infarct). P. G.J. Nikkels. Department of Pathology\, University Medical Centre Utrecht. Utrecht\, The Netherlands\n10h00. Cervical spine defects in Menkes disease\, a new finding potentially confused with evidence of child abuse. S. Hill\, Warren Grant Magnuson\, Clinical Center\, Diagnostic Radiology\, Bethesda\, USA\n10h10. Transforming the International Nosology of Constitutional disorders of Bone into a web accessible knowledge base. A. Zankl. Genetic Health Queensland\, Royal Children’s hospital\, Brisbane\, Australia.\n10h20-11h Break\n11h-12h30 NEW PERSPECTIVES / Treatment\n11h00. Growth hormone (GH) treatment of children with SHOX deficiency is effective and does not adversely affect body proportions: Two-year results of a randomized\, controlled\, multi-center trial . M. Rosilio Eli Lilly and Company\, Suresnes\, France\n11h15. Nomenclature of OI syndromes\nD Sillence Deparment of Genetics\, The Children’s Hospital at Westmead Australia\n11h30. Complications of Bisphosphonates\nG Finidori Service d’orthopédie infantile\, Hôpital des Enfants Malades\, Paris\, France\n11h40. Penicillamine therapy results in symptomatic and radiological remission in diaphyseal dysplasia. D. Sillence. Deparment of Genetics\, The Children’s Hospital at Westmead Australia\n11h50. Perindropil reduces large artery stiffness and aortic root diameter in a randomised double blind study of patients with Marfan syndrome R. Savarirayan. Genetic Health Victoria\, Murdoch Childrens Research Institute\, Melbourne\, Australia\n12H00. Maroteaux –Lamy syndrome: E. Kakis\n12h15 CONCLUSION \n12h30 Lunch (hotel d’Orleans )\n14 h30-15h00 End of the meeting
URL:https://jpe.9a0.myftpupload.com/event/isds-8th-meeting-2007/
LOCATION:Toulouse-Lautrec Museum\, Palais de la Berbie\, Pl. Sainte-Cécile\, 81000 Albi\, France
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2007/07/ISDS2007GroupPhoto.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20050825T080000
DTEND;TZID=America/New_York:20050828T170000
DTSTAMP:20260521T152712
CREATED:20050826T023531Z
LAST-MODIFIED:20260216T150301Z
UID:10000004-1124956800-1125248400@jpe.9a0.myftpupload.com
SUMMARY:ISDS 7th Meeting 2005
DESCRIPTION:Hotel du Parc Congress Center \nMeeting Book – Program\, Abstracts and Participants (pdf) \nHere are pictures from the excursion to the Ovronnaz Spa: See 2005 Photo Gallery (courtesy of Dr. Frank Zaucke) \nSee 2005 Photo Gallery: Nosology Workshop and Excursion – but don’t be fooled – work was long and hard\, and the excursion was just one evening… \nThe Diagnostic Quiz was one of the Meeting’s Highlights – See 2005 Photo Gallery: Quiz and congratulate the Winning team! \n  \nPROGRAM AGENDA \nThursday\, August 25\n16:00-16:10 Superti-Furga: Welcome and Introduction\n16:10-18:00 MECHANISMS OF DISEASE AND LATE-BREAKING NEWS\nModerators: Stefan Mundlos and Stephen Robertson\n16:10-16:30 Ikegawa: Osteoarthritis and Lumbar Disc Disease Caused by Dysregulation of TGFβ Signaling\n16:30-16:50 Nishimura: Camurati-Engelmann dysplasia – with (or without) TGFβ mutations\n16:50-17:10 Gensure: Familial Caffey Disease and Collagen I Mutations\n17:10-17:30 Cormier: 3M Syndrome is caused by CUL7 Mutations\n17:30-17:50 Boyd: Cranio-Lenticulo-Sutural Dysplasia is Caused by COPII Mutations \nFriday\, August 26\n9:00-11:00 CLINICAL DELINEATION OF OLD AND NEW SYNDROMES\nModerators: David Rimoin and Martine LeMerrer\n9:00-9:15 Huber: Molecular Analysis of SHOX in 140 Patients with Short Stature\n9:15-9:30 Hill: The Arthropathy of NOMID\n9:30-9:45 Smithson: Spondylometaphyseal Dysplasia Sutcliffe Type\n9:45-10:00 McCann: Two Further Cases of Acrofacial Dysostosis ?\n10:00-10:15 Costa: Skeletal Dysplasia with Muscle Spasms- a NewDisorder?\n10:15-10:30 Giovannucci: Novel Syndrome with Peculiar Skeletal and Clinical Findings\n10.30-10:45 Sillence: A Second Family with Czech Dysplasia Metatarsal Type\n10:45-11:00 Savarirayan: Clinical and Radiographic Findings in Ten Patients with Metatropic Dysplasia\n11:00-11:30 Coffee break\n11:30-12:30 POSTER SESSION: AUTHORS AT POSTERS\n12:30-14:00 Lunch\n14:00-16:30 MICE AND MODELS\nModerators: Shiro Ikegawa and Geert Mortier\n14:00-14:15 Rossi: Microarray and Proteomic Studies of Phenotypic Variability in BrtlIV Mice\n14:15-14:30 Mallet: Chondrocytic lines as a model for Achondroplasia and Thanatophoric Dysplasia\n14:30-14:50 Pirog-Garcia: T583M COMP Knock-in Mouse as a Model of Mild Pseudoachondroplasia\n14:50-15:10 Leighton: A Knock-in Mouse Model of MED Caused by a MATN3 mutation\n15:10-15:30 Rossi: Contribution of Amino Acid Sulfur to Proteoglycan Sulfation in a Mouse Model of Diastrophic Dysplasia\n15:30-15:50 Mundlos: An Inversion Involving the Mouse SHH Locus Results in Brachydactyly Through Dysregulation of SHH Expression\n15:50-16:10 Lee: CRTAP and 3-Prolyl Hydroxylation of Fibrillar Collagens\n16:10-16:30 Coffee Break\n16:30-17:30 DISCUSSION OF UNKOWNS\nModerators: Jürgen Spranger\, Andrea Superti-Furga\n17:30-18:30 Christine Hall: “Signs” in skeletal dysplasias (special semiserious lecture) \nSaturday\, August 27\n8:30-9:30 ISDS BUSINESS MEETING\n9:45-12:30 MOLECULAR CHARACTERIZATION\nModerators: Mike Briggs and Bill Horton\n9:45-10:00 Rimoin: How many Classifications are necessary?\n10:00-10.15 Hellemans: Mutation Analysis of LEMD3 in Osteopoikilosis\, B-O Syndrome and Melorheostosis\n10:15-10:30 Dagoneau: Weill-Marchesani Syndrome: Dominant and Recessive\n10:30-10:50 Coffee Break\n10:50-11:05 Sangiorgi: Mutational Analysis of EXT1/EXT2 in Patients with Multiple Exostoses\n11:05-11:20 Bonafe: Vertebral Segmentation Defects: Phenotype delineation of Spondylo-Costal Dysostosis type 1 and 2 and search of other candidate genes\n11:20-11:35 Turnpenny: The Search for Further Causes of Abnormal Vertebral Segmentation\n11:35-11:50 Mortier: The Phenotypic Spectrum of COL2A1 Arg-to-Cys Mutations\n11:50-12:05 Mundlos: Mutations in the Receptor Interaction Site of GDF5 Cause Symphalangism and Brachydactyly A2\n12:10-13:00 ISDS DIAGNOSTIC COMPETITION\nwith Christine Hall and Andrea Superti-Furga\n*** afternoon excursions; standing dinner at Hotel ***\n20:00-22:00 BEYOND THE DIAGNOSIS\nModerators: Andres Giedion and Sheila Unger\n20:00-20:15 Spranger: Classification of the Enchondromatoses\n20:15-20:30 Renella: Spondyloenchondrodysplasia (SPENCD) With Spasticity\, Cerebral Calcifications\, and Immune Dysregulation\n20:30-20:45 Sillence: Bisphosphonate Therapies in Skeletal Dysplasias: New Indications\, New Trials\, and Widening Precautions\n20:45-21:00 Zeitlin: Limb Deformity Correction and Bisphosphonate Therapy in Jansen Metaphyseal Dysplasia\n21:00-21:15 Bacino: Quantification and Analysis of Craniofacial Features in Skeletal Dysplasias by Morphometric Analysis Using 3-D Laser Surface Scans\n21:15-21:30 Zabel: Autosomal Recessive Schmid Metaphyseal Dysplasia\n21:30-21:45 LeMerrer: Albright Osteodystrophy and Acroscyphodysplasia could be Due to a GNAS1 Mutation\n21:45-22:00 Aguirre : Presentation of an Extended Family with Autosomal Dominant Nager Syndrome \nSunday\, August 28\n9:00-11:00 PERSPECTIVE 2005\n9:00-9:15 Taylor: ESDN: A System for Increasing Access to Genetic Testing of Bone Dysplasias\n9:15-9:30 Robertson: Genotype-Phenotype Correlations In Frontometaphyseal Dysplasia\n9:30-9:45 Mendoza: Candidate Gene Analysis In Four Families With CDAGS Syndrome\n9:45-10:00 Bonafe: The Wide Phenotypic Spectrum of RMRP Mutations\n10:00-10:15 Thiel: Patients With Extreme Short Stature and RMRP Mutations\n10:15-10:30 Alanay: Phenotypic and Mutational Spectrum of Acromesomelic Dysplasia Maroteaux\n10:30-10:50 Superti-Furga: Overview of Nosology 2005 and Wrap-Up\n10:50-11:00 Cormier and LeMerrer: Paris 2007 \nEnd of Scientific Program \n***\nPOSTERS\n(listed by presenting author) \nAlanay: Spondylo-Ocular Syndrome: A New Entity Involving the Eye and Spine\nCavalcanti: Skeletal dysplasias in a Brazilian Perinatal Genetic Service\nDimitrov: Unusual clinical features in a Patient with AR form of MED Extending the Phenotype of this Entity\nEich: Hydrometrocolpos\, postaxial polydactyly\, and hypothalamic hamartoma in a patient with probable Pallister-Hall syndrome: differential diagnosis with the McKusick-Kaufman syndrome\nFresquet: Mutations and Polymorphisms in the Single A-Domain of Matrilin-3 Affect the Structure and Function of this Important Cartilage Structural Protein\nGarofalo: Mutation of the SNAPc Binding Site in RNASE MRP Promoter in CHH\nGiovannucci-Uzielli: Peculiar Skeletal Changes Associated with Maternal Uniparental Heterodisomy for Chromosome 14 in a Phenotypically Abnormal t(13;14) Robertsonian Translocation Carrier\nGiovannucci-Uzielli: Desbuquois Dysplasia: Radiological and Clinical Patterns for the Diagnosis of a Rare Autosomal Recessive Condition\nHorn: Clinical and Molecular Characterization of Two Adults with Autosomal Recessive Robinow Syndrome\nKaitila: Growth Hormone Treatment in 35 Prepubertal Children with Achondroplasia\nKaitila: Familial Campomelic\, Non-Fracturing Osteogenesis Imperfecta\nMendoza-Londono: SEDC with severe failure to thrive and psychomotor retardation in a Child with a GLY904GLU Substitution in COL2A1\nMendoza-Londono: Metaphyseal dysplasia with cone shaped epiphyses of the lower limbs (Bellini type): two additional patients with unique extraskeletal manifestations\nMcIntosh: Growth charts for weight\, height and other anthropometric measurements in children with skeletal dysplasias\nMornet: Multiple Exon-Skipping of the ALPL Gene in a Patient with Severe Hypophosphatasia\nMortier: Identification of an Unbalanced X-Autosome Translocation by Array-CGH in a Boy with a Syndromic Form of Brachytelephalangic CDP\nNikkel: Multiple Epiphyseal Dysplasia with Hernias\, Hypermobility\, and Dysmorphisms\nPinto-Basto: Spondyloepimetaphyseal Dysplasia Associated with Joint Laxity and Multiple Dislocations\, Mental Retardation\, Retinopathy and Deafness\nRimoin: Skeletal Dysplasia Registry\, Los Angeles\nSaha: Desbuquois syndrome: An Antenatal Dilemma\nSantos: Clinical Hypochondroplasia in a Family Caused by HeterozygousDouble Mutation in FGFR3 Encoding GLY380LYS\nSavarirayan: Medial Temporal Lobe Dysgenesis in Hypochondroplasia\nScarano: Lethal Hypophosphatasia Prenatally Diagnosed: Clinical and Molecular Studies\nSillence: Novel Malignancies in a Boy with Maffucci Syndrome Treated with Pamidronate\nSmithson: Fetal Growth Parameters Can Overestimate Severity of Hypophosphatasia\nSteichen: DLL3-Mutations in Spondylocostal Dysostosis Type1 (SCDO1)-Report of 2 Patients\nToiviainen-Salo: Binder Syndrome Associated with Early Onset Primary Osteoporosis\nUnger: Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses of the Long Bones: Report of a Sixth Patient\nWang: Decompressive Craniotomy and Barrel-Stave Osteotomies for Increased ICP in a Patient with Camurati-Engelmann Disease and Skull Hyperostosis\nZabel: Autosomal Dominant Metaphyseal Anadysplasia\nZabel: Osteoglophonic Dysplasia with Severe Osteolytic Fibrous Mandibular Defects\nZankl: Preselection of Cases Through Expert Clinical-Radiological Review Significantly Increases Mutation Detection Rate in Autosomal Dominant Multiple Epiphyseal Dysplasia
URL:https://jpe.9a0.myftpupload.com/event/isds-7th-meeting-2005/
LOCATION:Hotel du Parc Congress Center\, Römerstrasse 24\, 5400 Baden\, Switzerland
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2005/08/ISDS2005GroupPhoto-1.jpg
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BEGIN:VEVENT
DTSTART;TZID=America/New_York:20030821T080000
DTEND;TZID=America/New_York:20030824T170000
DTSTAMP:20260521T152712
CREATED:20030822T021449Z
LAST-MODIFIED:20260219T200236Z
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SUMMARY:ISDS 6th Meeting 2003
DESCRIPTION:Organized by Claire Francomano \nSponsors\nWe gratefully acknowledge the support of:\nThe National Institutes of Health (NIH)\, Office of Rare Diseases\, National Institute on Aging\nGenzyme\nBiomarin\nMarch of Dimes\nInternational Academy of Preventive Medicine\nThe Smart Family Foundation \nView 2003 Photo Gallery\nSCIENTIFIC SECTION\nSummary and Commentary (PDF) on the meeting \nMany of the ISDS 2003 presentations have been published in the meantime. Some of the papers can be downloaded here:\nWarman group\, Acromesomelic dysplasia gene\nMundlos group\, SEMD Omani type gene\nMundlos group\, Brachydactyly A2 gene\nMortier group\, Acrocapitofemoral clinical and gene identification\nCohn group\, Dyggve-Melchior-Clausen gene\nCormier-Daire group\, Dyggve-Melchior-Clausen gene\nHorton group\, FGFR3 trafficking in Achondroplasia\nFrancomano group\, FGFR3 /Thanatophoric mouse model for CNS\nFisher group\, Zebrafish collagen 1 mutant\nRobertson\, Filamin A dysplasia spectrum\nKrakow-Robertson consortium\, Filamin B dysplasia spectrum \nThe 2003 meeting has been a great success! Thank you very much\, Clair Francomano and Team\, for having everything arranged so nicely. The scientific presentations were just excellent\, the cocktail between molecular biology and biochemistry\, clinical aspects\, radiology and animal studies was perfect. As for the social part\, take a look at the pictures. Last but not least\, thank you Christine (Hall) for organizing the Diagnostic Contest. The team composed of McAlister/Poznanski/Sillence/Smithson/Unger won over the two other teams\, Cormier/LeMerrer/Mortier/Superti-Furga and Krakow/Lachman/Rimoin/Savarirayan/etc.
URL:https://jpe.9a0.myftpupload.com/event/isds-6th-meeting-2003/
LOCATION:Airlie Conference Center\, 6809 Airlie Rd\, Warrenton\, VA\, Warrenton\, VA\, 20187\, United States
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2003/08/ISDS2003GroupPhoto.jpg
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BEGIN:VEVENT
DTSTART;TZID=America/New_York:20010904T080000
DTEND;TZID=America/New_York:20010908T170000
DTSTAMP:20260521T152712
CREATED:20010905T015605Z
LAST-MODIFIED:20260219T203758Z
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SUMMARY:ISDS 5th Meeting 2001
DESCRIPTION:Organized by Christine Hall \nNosology Revision by the Nosology Group\nDownload the the PDF version of the Nosology paper \nView 2001 Photo Gallery\nMembers’ Business Meeting\n\nMain topics: \n\nChristine Hall receives unanimous congratulations\, applause and thanks for the organization of the Oxford meeting. Presidency is taken over by Clair Francomano who will host the next meeting in Baltimore in the fall of 2003. The meeting 2005 will be organized by A. Superti-Furga in Switzerland.\nThe President shall nominate the Nosology Group from ISDS members with expertise in the individual fields. All ISDS members may submit nominations to the President to this purpose – It will probably be to soon to have a Nosology revision in 2003 (revisions have been undertaken every 4 years so far). Instead\, it might be useful to implement a Molecular Classification. A first version of such a classification has been presented at the Meeting and has been published (Superti-Furga\, Bonafe and Rimoin AJMG 2001).\nAndres Giedion steps down as Honorary Secretary. His work is gratefully acknowledged. He will be replaced as Secretary by A. Superti-Furga; G. Eich is elected Hon. Treasurer.\nThe “Skeldys” Mailing list shall be restricted to ISDS members and will thus become the official forum of the ISDS. Access to the Mailing list is one of the bonuses of membership.\nIt is decided to extend the current membership period to the end of 2002. This means that all current members will have to renew their membership by the end of 2002.\nthe absence of Kazimir Kozlowski (on a humanitarian mission in Eastern Europe) and of Bob Gorlin is regretted. Council is currently composed largely of senior founding members\, some of whom are no longer professionally active. The need for rejuvenation is recognized. This shall occur during the Baltimore 2003 meeting.\n\nThe Oxford meeting also included: interesting case discussions\, a diagnostic competition with VERY difficult cases and terrific suspense\, dining in College\, with a Harry Potter ambiance and …the unofficial ISDS Beer Drinking Contest (the winner was G.B.\, pictures only on special request) and a lot of fun!
URL:https://jpe.9a0.myftpupload.com/event/isds-5th-meeting-2001/
LOCATION:Oxford\, England\, Oxford\, United Kingdom
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2001/09/ISDS2001GroupPhoto.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:19990210T080000
DTEND;TZID=America/New_York:19990210T170000
DTSTAMP:20260521T152712
CREATED:19990211T032426Z
LAST-MODIFIED:20260219T200604Z
UID:10000017-918633600-918666000@jpe.9a0.myftpupload.com
SUMMARY:ISDS 4th Meeting 1999
DESCRIPTION:View 1999 Photo Gallery
URL:https://jpe.9a0.myftpupload.com/event/isds-4th-meeting-1999/
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/1999/02/ISDS1999GroupPhoto.jpg
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BEGIN:VEVENT
DTSTART;TZID=America/New_York:19970807T080000
DTEND;TZID=America/New_York:19970809T170000
DTSTAMP:20260521T152712
CREATED:19970808T022533Z
LAST-MODIFIED:20260219T200647Z
UID:10000018-870940800-871146000@jpe.9a0.myftpupload.com
SUMMARY:ISDS 3rd Meeting 1997
DESCRIPTION:Organized by Bari Laner\, Sue Lane and Maryanne Priore \nISDS 1997 Los Angeles Abstract Book \nView 1997 Photo Gallery
URL:https://jpe.9a0.myftpupload.com/event/isds-3rd-meeting-1997/
LOCATION:Los Angeles
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/1997/02/ISDS1997GroupPhoto.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:19950210T080000
DTEND;TZID=America/New_York:19950210T170000
DTSTAMP:20260521T152712
CREATED:19950211T032649Z
LAST-MODIFIED:20260219T200726Z
UID:10000019-792403200-792435600@jpe.9a0.myftpupload.com
SUMMARY:ISDS 2nd Meeting 1995
DESCRIPTION:Organized by Pierre Maroteaux
URL:https://jpe.9a0.myftpupload.com/event/isds-2nd-meeting-1995/
LOCATION:Versailles\, Versailles\, France
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2009/07/ISDS_NewsPlaceholder.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:19930210T080000
DTEND;TZID=America/New_York:19930210T170000
DTSTAMP:20260521T152712
CREATED:19930211T032751Z
LAST-MODIFIED:20260219T203742Z
UID:10000020-729331200-729363600@jpe.9a0.myftpupload.com
SUMMARY:ISDS 1st Meeting 1993
DESCRIPTION:Organized by Andrew Pozanski \nThe first meeting of the Bone Dysplasia Society (which later became the International Skeletal Dysplasia Society\, or ISDS)
URL:https://jpe.9a0.myftpupload.com/event/isds-1st-meeting-1993/
LOCATION:Chicago\, Chicago\, Illinois\, United Kingdom
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://jpe.9a0.myftpupload.com/wp-content/uploads/2009/07/ISDS_NewsPlaceholder.jpg
END:VEVENT
END:VCALENDAR