7th Meeting 2005

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)


Click for a large picture!

Scientific Program

Thursday, August 25
16:00-16:10 Superti-Furga: Welcome and Introduction
16:10-18:00 MECHANISMS OF DISEASE AND LATE-BREAKING NEWS
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
9:00-11:00 CLINICAL DELINEATION OF OLD AND NEW SYNDROMES
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
11:30-12:30 POSTER SESSION: AUTHORS AT POSTERS
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
16:30-17:30 DISCUSSION OF UNKOWNS
Moderators: Jürgen Spranger, Andrea Superti-Furga
17:30-18:30 Christine Hall: “Signs” in skeletal dysplasias (special semiserious lecture)

Saturday, August 27
8:30-9:30 ISDS BUSINESS MEETING
9:45-12:30 MOLECULAR CHARACTERIZATION
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
12:10-13:00 ISDS DIAGNOSTIC COMPETITION
with Christine Hall and Andrea Superti-Furga
*** afternoon excursions; standing dinner at Hotel ***
20:00-22:00 BEYOND THE DIAGNOSIS
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

POSTERS
(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