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International Nosology and Classification of Genetic Skeletal Disorders (2010 revision) (PDF)
Nosology and Classification of Genetic Skeletal Disorders (2006 revision) (PDF)
International Nosology and Classification of Constitutional Disorders of Bone (2002 revision) (PDF)
Molecular Pathogenetic Classification of Genetic Disorders of the Skeleton (PDF)
Developmental Approach to Genetic Disorders of the Skeleton (PDF)

General papers on genetic bone disease
Genetic Approach to the Diagnosis of Skeletal dysplasias
Advances in Pediatrics - Skeletal Dysplasias
Diagnostic Approach to Skeletal Dysplasias
Radiologic Approach to the Diagnosis of Skeletal Dysplasias
Genetics of Congenital Hand Anomalies 


Older ISDS 2003 presentations 
Summary and Commentary on the 2003 meeting
Warman group, Acromesomelic dysplasia gene
Mundlos group, SEMD Omani type gene
Mundlos group, Brachydactyly A2 gene
Mortier group, Acrocapitofemoral clinical and gene identification
Cohn group, Dyggve-Melchior-Clausen gene
Cormier-Daire group, Dyggve-Melchior-Clausen gene
Horton group, FGFR3 trafficking in Achondroplasia
Francomano group, FGFR3 /Thanatophoric mouse model for CNS
Fisher group, Zebrafish collagen 1 mutant
Robertson, Filamin A dysplasia spectrum
Krakow-Robertson consortium, Filamin B dysplasia spectrum
Mäkitie/Cole, Skeletal Changes in Shwachman-Diamond

LEMD3 in melorheostosis and osteopoikylosis
FGFR1 and osteoglophonic dysplasia
Bruck Syndrome and PLOD2
Spondyloperipheral dysplasia and COL2A1 C-propeptide mutations
Torrance dysplasia and COL2A1 two cases
Torrance dysplasia and COL2A1 C-propeptide mutations