7th Meeting 2005

7th ISDS Meeting 2005
Thursday, August 25, 2005, noon to Sunday, August 28, 2005, noon
Martigny, Switzerland

Hotel du Parc Congress Center

Download the Meeting Book - Program, Abstracts and Participants in PDF Format

See the Picture Gallery of the Nosology workshop (and Excursion) - but don't be fooled - work was long and hard, and the excursion was just one evening...

The Diagnostic Quiz was one of the Meeting's Highlights - see the Gallery and congratulate the Winning team!
... and here are pictures from the Excursion to the Ovronnaz Spa (courtesy of Dr. Frank Zaucke)

ISDS 2005 Group Photo
Click for a large picture!

Scientific Program

Thursday, August 25
16:00-16:10 Superti-Furga: Welcome and Introduction
Moderators: Stefan Mundlos and Stephen Robertson
16:10-16:30 Ikegawa: Osteoarthritis and Lumbar Disc Disease Caused by Dysregulation of TGFβ Signaling
16:30-16:50 Nishimura: Camurati-Engelmann dysplasia - with (or without) TGFβ mutations
16:50-17:10 Gensure: Familial Caffey Disease and Collagen I Mutations
17:10-17:30 Cormier: 3M Syndrome is caused by CUL7 Mutations
17:30-17:50 Boyd: Cranio-Lenticulo-Sutural Dysplasia is Caused by COPII Mutations

Friday, August 26
Moderators: David Rimoin and Martine LeMerrer
9:00-9:15 Huber: Molecular Analysis of SHOX in 140 Patients with Short Stature
9:15-9:30 Hill: The Arthropathy of NOMID
9:30-9:45 Smithson: Spondylometaphyseal Dysplasia Sutcliffe Type
9:45-10:00 McCann: Two Further Cases of Acrofacial Dysostosis ?
10:00-10:15 Costa: Skeletal Dysplasia with Muscle Spasms- a NewDisorder?
10:15-10:30 Giovannucci: Novel Syndrome with Peculiar Skeletal and Clinical Findings
10.30-10:45 Sillence: A Second Family with Czech Dysplasia Metatarsal Type
10:45-11:00 Savarirayan: Clinical and Radiographic Findings in Ten Patients with Metatropic Dysplasia
11:00-11:30 Coffee break
12:30-14:00 Lunch
14:00-16:30 MICE AND MODELS
Moderators: Shiro Ikegawa and Geert Mortier
14:00-14:15 Rossi: Microarray and Proteomic Studies of Phenotypic Variability in BrtlIV Mice
14:15-14:30 Mallet: Chondrocytic lines as a model for Achondroplasia and Thanatophoric Dysplasia
14:30-14:50 Pirog-Garcia: T583M COMP Knock-in Mouse as a Model of Mild Pseudoachondroplasia
14:50-15:10 Leighton: A Knock-in Mouse Model of MED Caused by a MATN3 mutation
15:10-15:30 Rossi: Contribution of Amino Acid Sulfur to Proteoglycan Sulfation in a Mouse Model of Diastrophic Dysplasia
15:30-15:50 Mundlos: An Inversion Involving the Mouse SHH Locus Results in Brachydactyly Through Dysregulation of SHH Expression
15:50-16:10 Lee: CRTAP and 3-Prolyl Hydroxylation of Fibrillar Collagens
16:10-16:30 Coffee Break
Moderators: Jürgen Spranger, Andrea Superti-Furga
17:30-18:30 Christine Hall: “Signs” in skeletal dysplasias (special semiserious lecture)

Saturday, August 27
Moderators: Mike Briggs and Bill Horton
9:45-10:00 Rimoin: How many Classifications are necessary?
10:00-10.15 Hellemans: Mutation Analysis of LEMD3 in Osteopoikilosis, B-O Syndrome and Melorheostosis
10:15-10:30 Dagoneau: Weill-Marchesani Syndrome: Dominant and Recessive
10:30-10:50 Coffee Break
10:50-11:05 Sangiorgi: Mutational Analysis of EXT1/EXT2 in Patients with Multiple Exostoses
11:05-11:20 Bonafe: Vertebral Segmentation Defects: Phenotype delineation of Spondylo-Costal Dysostosis type 1 and 2 and search of other candidate genes
11:20-11:35 Turnpenny: The Search for Further Causes of Abnormal Vertebral Segmentation
11:35-11:50 Mortier: The Phenotypic Spectrum of COL2A1 Arg-to-Cys Mutations
11:50-12:05 Mundlos: Mutations in the Receptor Interaction Site of GDF5 Cause Symphalangism and Brachydactyly A2
with Christine Hall and Andrea Superti-Furga
*** afternoon excursions; standing dinner at Hotel ***
Moderators: Andres Giedion and Sheila Unger
20:00-20:15 Spranger: Classification of the Enchondromatoses
20:15-20:30 Renella: Spondyloenchondrodysplasia (SPENCD) With Spasticity, Cerebral Calcifications, and Immune Dysregulation
20:30-20:45 Sillence: Bisphosphonate Therapies in Skeletal Dysplasias: New Indications, New Trials, and Widening Precautions
20:45-21:00 Zeitlin: Limb Deformity Correction and Bisphosphonate Therapy in Jansen Metaphyseal Dysplasia
21:00-21:15 Bacino: Quantification and Analysis of Craniofacial Features in Skeletal Dysplasias by Morphometric Analysis Using 3-D Laser Surface Scans
21:15-21:30 Zabel: Autosomal Recessive Schmid Metaphyseal Dysplasia
21:30-21:45 LeMerrer: Albright Osteodystrophy and Acroscyphodysplasia could be Due to a GNAS1 Mutation
21:45-22:00 Aguirre : Presentation of an Extended Family with Autosomal Dominant Nager Syndrome

Sunday, August 28
9:00-11:00 PERSPECTIVE 2005
9:00-9:15 Taylor: ESDN: A System for Increasing Access to Genetic Testing of Bone Dysplasias
9:15-9:30 Robertson: Genotype-Phenotype Correlations In Frontometaphyseal Dysplasia
9:30-9:45 Mendoza: Candidate Gene Analysis In Four Families With CDAGS Syndrome
9:45-10:00 Bonafe: The Wide Phenotypic Spectrum of RMRP Mutations
10:00-10:15 Thiel: Patients With Extreme Short Stature and RMRP Mutations
10:15-10:30 Alanay: Phenotypic and Mutational Spectrum of Acromesomelic Dysplasia Maroteaux
10:30-10:50 Superti-Furga: Overview of Nosology 2005 and Wrap-Up
10:50-11:00 Cormier and LeMerrer: Paris 2007

End of Scientific Program

(listed by presenting author)
Alanay: Spondylo-Ocular Syndrome: A New Entity Involving the Eye and Spine
Cavalcanti: Skeletal dysplasias in a Brazilian Perinatal Genetic Service
Dimitrov: Unusual clinical features in a Patient with AR form of MED Extending the Phenotype of this Entity
Eich: Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with probable Pallister-Hall syndrome: differential diagnosis with the McKusick-Kaufman syndrome
Fresquet: Mutations and Polymorphisms in the Single A-Domain of Matrilin-3 Affect the Structure and Function of this Important Cartilage Structural Protein
Garofalo: Mutation of the SNAPc Binding Site in RNASE MRP Promoter in CHH
Giovannucci-Uzielli: Peculiar Skeletal Changes Associated with Maternal Uniparental Heterodisomy for Chromosome 14 in a Phenotypically Abnormal t(13;14) Robertsonian Translocation Carrier
Giovannucci-Uzielli: Desbuquois Dysplasia: Radiological and Clinical Patterns for the Diagnosis of a Rare Autosomal Recessive Condition
Horn: Clinical and Molecular Characterization of Two Adults with Autosomal Recessive Robinow Syndrome
Kaitila: Growth Hormone Treatment in 35 Prepubertal Children with Achondroplasia
Kaitila: Familial Campomelic, Non-Fracturing Osteogenesis Imperfecta
Mendoza-Londono: SEDC with severe failure to thrive and psychomotor retardation in a Child with a GLY904GLU Substitution in COL2A1
Mendoza-Londono: Metaphyseal dysplasia with cone shaped epiphyses of the lower limbs (Bellini type): two additional patients with unique extraskeletal manifestations
McIntosh: Growth charts for weight, height and other anthropometric measurements in children with skeletal dysplasias
Mornet: Multiple Exon-Skipping of the ALPL Gene in a Patient with Severe Hypophosphatasia
Mortier: Identification of an Unbalanced X-Autosome Translocation by Array-CGH in a Boy with a Syndromic Form of Brachytelephalangic CDP
Nikkel: Multiple Epiphyseal Dysplasia with Hernias, Hypermobility, and Dysmorphisms
Pinto-Basto: Spondyloepimetaphyseal Dysplasia Associated with Joint Laxity and Multiple Dislocations, Mental Retardation, Retinopathy and Deafness
Rimoin: Skeletal Dysplasia Registry, Los Angeles
Saha: Desbuquois syndrome: An Antenatal Dilemma
Santos: Clinical Hypochondroplasia in a Family Caused by HeterozygousDouble Mutation in FGFR3 Encoding GLY380LYS
Savarirayan: Medial Temporal Lobe Dysgenesis in Hypochondroplasia
Scarano: Lethal Hypophosphatasia Prenatally Diagnosed: Clinical and Molecular Studies
Sillence: Novel Malignancies in a Boy with Maffucci Syndrome Treated with Pamidronate
Smithson: Fetal Growth Parameters Can Overestimate Severity of Hypophosphatasia
Steichen: DLL3-Mutations in Spondylocostal Dysostosis Type1 (SCDO1)-Report of 2 Patients
Toiviainen-Salo: Binder Syndrome Associated with Early Onset Primary Osteoporosis
Unger: Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses of the Long Bones: Report of a Sixth Patient
Wang: Decompressive Craniotomy and Barrel-Stave Osteotomies for Increased ICP in a Patient with Camurati-Engelmann Disease and Skull Hyperostosis
Zabel: Autosomal Dominant Metaphyseal Anadysplasia
Zabel: Osteoglophonic Dysplasia with Severe Osteolytic Fibrous Mandibular Defects
Zankl: Preselection of Cases Through Expert Clinical-Radiological Review Significantly Increases Mutation Detection Rate in Autosomal Dominant Multiple Epiphyseal Dysplasia