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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://internationalsds.org/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://internationalsds.org/wp-content/uploads/2005/08/ISDS2005GroupPhoto-1.jpg
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