8th Meeting
of the International Skeletal Dysplasia Society
ALBI, FRANCE
July 19-22, 2007

Gymnase de l'Athanor
Place de l'Amitié entre les Peuples
81 000 Albi, France

 

 

 

 

Thursday July 19

13h30. Opening.

15h-15H30
Welcome and Introduction
Pierre Maroteaux : Toulouse-Lautrec 

15h30-16H45 NEW GENES

15h30. GDF5 and OA - of Human and of Mouse.
S. Ikegawa. Laboratory for Bone and Joint diseases, SNP Research Center. Riken, Japan

15h45. Mutations in PLEKHM1 involved in vesicular transport in osteoclasts cause osteopetrosis.  B. Perdu, Department of Medical Genetics, University and Hospital of Antwerp, Antwerp, Belgium

16h00. Mutations in aggregan (AGC1) cause Dexter cattle chondrodysplasia.
R. Savarirayan, Murdoch Childrens Research Institute and University of Melbourne, Melbourne, Australia

16h15. 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.

16h30. Autosomal recessive hypophosphatemia caused by a homozygous mutation in DMP1. O. Mäkitie, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland

16h45-17h15 Break

17h15-18h30 Late Breaking News

17h15. Molecular pathology of Metaphyseal anadysplasia.
E. Lausch, Universitäts-Kinderklinik Mainz, Mainz, Germany

17h30. Molecular basis of Ghosal syndrome.
D. Genevieve, Department of Genetics and INSERM U781, Hôpital Necker-Enfants-Malades, Paris-France

Evening:   Dinner Mairie d’Albi

***

Friday July 20

9h-10h15. Clinical delineation

9h00. Skeletal dysplasia in the Vienna collection.
P Beighton, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa

9h10. The skeletal phenotype of Schimke immuno-osseous dysplasia.
SF. Smithson , Deparment of Clinical Genetics, St Michael’s hospital, Bristol, UK

9h20. 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

9h30. Defining disorders with Erlenmeyer Flask Bone Deformity.
M A. Faden, Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, USA

9H40. Towards a better delineation of Odontochondrodysplasia.
A. Superti-Furga, Ctr for Peds and Inst Hum Genet, University of Freiburg, Germany

9h50. 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.
S. Mundlos, Max-Planck-Institut für molekulare Genetik, Berlin, Germany

10h00. Clinical and radiographic features of autosomal dominant brachyolmia.
D.H. Cohn, Cedars-Sinai Medical Center and David Geffen School of Medecine, UCLA, LA, USA

10h15-10h45 Break

10h45-12h00. Vertebral segmentation

10h45. Segmental patterning of the spine: from clocks to scoliosis.
O. Pourquié, Stowers Institute for Medical Research/Howard Hughes Medical Institute, Kansas City, Missouri, USA

11h45. A new classification system for congenital scoliosis and abnormal vertebral segmentation.
P. Turnpenny, Clinicals Genetics, Royal Devon & Exeter Hospital, Exeter, UK

12h00-12h45 Poster Session

12h45-14h15  Lunch (Parc de Rochegude)

14h15-16h30. Murine Models 

14h15. Growth plate characterization in TSP35/Col9 Knock-out mice.
 J.T. Hecht, University of Texas Health Science Center-Houston, Houston, TX, USA

14h30. 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   

14h45. Bone phenotype in a mouse model of Diastrophic Dysplasia.
B.Gualeni. Department of Biochemistry, University of Pavia, Italy

15h00.Reduced cell proliferation and increased apoptosis are significant
pathological mechanisms in murine models of mild pseudoachondroplasia and
multiple epiphyseal dysplasia resulting from mutations in MATN3 and COMP.
M. Briggs, Wellcome Trust Centre for Cell-Matrix Research, Faculty of Life Sciences, University of Manchester, UK

15h15 Multiple roles of neurofibromin 1 in skeletal development and growth.
S. Mundlos Max-Planck-Institut für molekulare Genetik, Berlin, Germany

15h30 Defects in Filamin B produce a variety of skeletal defects.
D. Krakow,  Medical Genetics Institute, Cedars-Sinai Medical Center, UCLA, Los Angeles, USA

15h45 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

16h00-16h30 break

16h30-17h30 "Unknowns" Session

17h30-18h30 ISDS DIAGNOSTIC COMPETITION

 

Evening:   Dinner Chateau de Mauriac

 ***

Saturday July 21

8h30-10h30 Molecular Characterization

8h30. Genotype and phenotype of Stickler syndrome caused by mutation in the COL2A1 gene. K.Hoornaert, Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

8h45. 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

9h00. SOX9, Campomelic and Acampomelic Dysplasia : A molecular and clinical update. G. Scherer, Institute of Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany

9h15. An update on the spectrum of LEMD3 mutations in patients with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
J. Hellemans, Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

9h30. Genotype-Phenotype study in 240 MO patients.
L. Sangiorgi, Genetic Unit, Rizzzoli Orthopaedic Institute. Italy

9h45. The molecular genetics of Scheuermann disease.
M. Irving, Murdoch Children’s Research Institute, Melbourne, Australia

10h00. Molecular analysis of CUL7 in 3M syndrome.
C. Huber, Department of Genetics, INSERM U781, Hôpital Necker-Enfants-Malades, Paris-France

10h15. Czech dysplasia metatarsal type : another type II collagen disorder.
G. Mortier, Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

10h30-11h00 Brea  (Tour de France)

11h30-12h30 Poster Session 2

12h30-14h00 lunch (Parc de Rochegude)

14h00-16h15 Cellular-Molecular Characterization

14h00. Countering excessive FGFR3 signals in achondroplasia.
W Horton,  Shriners Hospital/ OHSU, Portland, USA

14h30. Complexity of FGF signaling in chondrocytes.    WR. Wilcox, Medical Genetics Institute, Cedars- Sinai Medical Center. Los Angeles, USA

14h45. Wisp1 is expressed during cartilage development.  P. Kannu, Skeletal Biology and Disease, Murdoch Childrens Research Institute, Melbourne. Australia

15h00. 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

15h15. 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.

15h30. 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

15h45. 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

16h00 Noggin mutations deregulate BMP signaling during limb devopment and lead to joint fusions and brachydactyly.
P. Seemann, Max-Planck-Institut für molekulare Genetik, Berlin, Germany.

16h15-16h40 Break

16h40-18h00 Management

16h40. Orthopedic management of chondrodysplasias.
G Finidori, Service d’orthopédie infantile, hôpital des Enfants Malades, Paris, France

17h00. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia.
D. Rimoin, Cedars-Sinai Medical Center. Los Angeles, CA, USA

17h15. The Restricted Growth Experience; Quality of Life and Barriers to Participation.
M J Wright, Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK

17h30. Obstetrics and obstretical anesthesia issues in women with dwarfism.
J.E. Hoover-Fong,  McKusick-Nathans Institute of Genetic Medecine, Johns Hopkins University, Baltimore USA

17h45. Open discussion- Guidelines : D.Rimoin

 

Cathedral (concert)

Toulouse Lautrec museum (visit and dinner)

***

Sunday July 22

9h-10h30 –Clinical Characterization

9h00. Angulated femurs and the skeletal dysplasias.  Y Alanay. Clinical Genetics Unit, Department of Pediatrics, Faculty of Medecine, Hacettepe Unversity, Ankara, Turkey

9h10. Cerebro-osseous-digital syndrome-Clinical and radiological phenotype with histological findings.
CM Hall, Department of Radiology, Great Ormond Street Hospital for Children, London, UK

 9h20. Delineation of a new syndrome with syn-/oligodactyly, urogenital malformations and anal atresia. S.Unger, Institute for Human Genetics, University of Freiburg, Germany.

9h30. 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

9h40. Adams-Oliver syndrome: clinical variability in a four-generation family.
C. A. Bacino. Deparment of Molecular and Human Genetics, Baylor College of Medecine, Houston, USA

9h50. 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

10h00. 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

10h10. 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.

10h20-11h Break

11h-12h30 NEW PERSPECTIVES / Treatment

11h00. 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

11h15. Nomenclature of OI syndromes
D Sillence Deparment of Genetics, The Children’s Hospital at Westmead Australia

11h30. Complications of Bisphosphonates
G Finidori Service d’orthopédie infantile, Hôpital des Enfants Malades, Paris, France

11h40. Penicillamine therapy results in symptomatic and radiological remission in diaphyseal dysplasia. D. Sillence. Deparment of Genetics, The Children’s Hospital at Westmead Australia

11h50. 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

12H00. Maroteaux –Lamy syndrome: E. Kakis

12h15 CONCLUSION

12h30  Lunch  (hotel d’Orleans )

14 h30-15h00 End of the meeting