Nosology and classification of genetic skeletal disorders: 2010 revision.

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Serval ID
serval:BIB_31F9B1D3B25E
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Nosology and classification of genetic skeletal disorders: 2010 revision.
Journal
American Journal of Medical Genetics. Part A
Author(s)
Warman M.L., Cormier-Daire V., Hall C., Krakow D., Lachman R., Lemerrer M., Mortier G., Mundlos S., Nishimura G., Rimoin D.L., Robertson S., Savarirayan R., Sillence D., Spranger J., Unger S., Zabel B., Superti-Furga A.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Publication state
Published
Issued date
2011
Volume
155
Number
5
Pages
943-968
Language
english
Abstract
Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular pathogenesis. The aim is to provide the Genetics, Pediatrics and Radiology community with a list of recognized genetic skeletal disorders that can be of help in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists interested in skeletal biology. In the 2010 revision, 456 conditions were included and placed in 40 groups defined by molecular, biochemical, and/or radiographic criteria. Of these conditions, 316 were associated with mutations in one or more of 226 different genes, ranging from common, recurrent mutations to "private" found in single families or individuals. Thus, the Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. The Nosology should be useful for the diagnosis of patients with genetic skeletal diseases, particularly in view of the information flood expected with the novel sequencing technologies; in the delineation of clinical entities and novel disorders, by providing an overview of established nosologic entities; and for scientists looking for the clinical correlates of genes, proteins and pathways involved in skeletal biology. © 2011 Wiley-Liss, Inc.
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Create date
08/06/2011 8:36
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20/08/2019 13:17
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