Nosology and classification of genetic skeletal disorders: 2015 revision

摘要: The purpose of the nosology is to serve as a "master" list genetic disorders skeleton facilitate diagnosis and help delineate variant or newly recognized conditions. This 9th edition in comparison with its predecessor there are fewer conditions but many new genes. In previous editions, diagnoses that were phenotypically indistinguishable genetically heterogenous listed separately we felt this was an unnecessary distinction. Thus overall number has decreased from 456 436 groups increased 42 genes 364. may become increasingly important today tomorrow era big data when question for geneticist often whether mutation identified by next generation sequencing technology particular gene can explain clinical radiological phenotype their patient. be particularly difficult answer conclusively prenatal setting. Personalized medicine emphasizes importance tailoring therapy individual our patients rare skeletal disorders, tapping into resource where centralized made available should not forgotten underestimated. also reference creation locus-specific databases expected delineating genotype-phenotype correlations harbor information will gained combining observations results.