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)

 

Many of the ISDS 2003 presentations have been published in the meantime. Some of the papers can be downloaded here (all PDF format)

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

 

 

Other recently published papers on skeletal dysplasias and related subjects

 

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

 

 

 

Some 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