Serveur d'exploration sur les relations entre la France et l'Australie

Attention, ce site est en cours de développement !
Attention, site généré par des moyens informatiques à partir de corpus bruts.
Les informations ne sont donc pas validées.

Nosology and classification of genetic skeletal disorders: 2015 revision.

Identifieur interne : 002904 ( PubMed/Checkpoint ); précédent : 002903; suivant : 002905

Nosology and classification of genetic skeletal disorders: 2015 revision.

Auteurs : Luisa Bonafe [Suisse] ; Valerie Cormier-Daire [France] ; Christine Hall [Royaume-Uni] ; Ralph Lachman [États-Unis] ; Geert Mortier [Belgique] ; Stefan Mundlos [Allemagne] ; Gen Nishimura [Japon] ; Luca Sangiorgi [Italie] ; Ravi Savarirayan [Australie] ; David Sillence [Australie] ; Jürgen Spranger [Allemagne] ; Andrea Superti-Furga [Suisse] ; Matthew Warman ; Sheila Unger [Suisse]

Source :

RBID : pubmed:26394607

Descripteurs français

English descriptors

Abstract

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

DOI: 10.1002/ajmg.a.37365
PubMed: 26394607


Affiliations:


Links toward previous steps (curation, corpus...)


Links to Exploration step

pubmed:26394607

Le document en format XML

<record>
<TEI>
<teiHeader>
<fileDesc>
<titleStmt>
<title xml:lang="en">Nosology and classification of genetic skeletal disorders: 2015 revision.</title>
<author>
<name sortKey="Bonafe, Luisa" sort="Bonafe, Luisa" uniqKey="Bonafe L" first="Luisa" last="Bonafe">Luisa Bonafe</name>
<affiliation wicri:level="1">
<nlm:affiliation>Centre des Maladies Moléculaires CHUV, University of Lausanne, Switzerland.</nlm:affiliation>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Centre des Maladies Moléculaires CHUV, University of Lausanne</wicri:regionArea>
<wicri:noRegion>University of Lausanne</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name>
<affiliation wicri:level="3">
<nlm:affiliation>IMAGINE Institute, Hôpital Necker Enfants Malade, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>IMAGINE Institute, Hôpital Necker Enfants Malade, Paris</wicri:regionArea>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Hall, Christine" sort="Hall, Christine" uniqKey="Hall C" first="Christine" last="Hall">Christine Hall</name>
<affiliation wicri:level="3">
<nlm:affiliation>Department of Radiology, Great Ormond Street Hospital, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Radiology, Great Ormond Street Hospital, London</wicri:regionArea>
<placeName>
<settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Lachman, Ralph" sort="Lachman, Ralph" uniqKey="Lachman R" first="Ralph" last="Lachman">Ralph Lachman</name>
<affiliation wicri:level="2">
<nlm:affiliation>International Skeletal Dysplasia Registry, University of California, Los Angeles, California.</nlm:affiliation>
<country>États-Unis</country>
<placeName>
<region type="state">Californie</region>
</placeName>
<wicri:cityArea>International Skeletal Dysplasia Registry, University of California, Los Angeles</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp</wicri:regionArea>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Mundlos, Stefan" sort="Mundlos, Stefan" uniqKey="Mundlos S" first="Stefan" last="Mundlos">Stefan Mundlos</name>
<affiliation wicri:level="3">
<nlm:affiliation>Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin</wicri:regionArea>
<placeName>
<region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Nishimura, Gen" sort="Nishimura, Gen" uniqKey="Nishimura G" first="Gen" last="Nishimura">Gen Nishimura</name>
<affiliation wicri:level="3">
<nlm:affiliation>Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo</wicri:regionArea>
<placeName>
<settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Sangiorgi, Luca" sort="Sangiorgi, Luca" uniqKey="Sangiorgi L" first="Luca" last="Sangiorgi">Luca Sangiorgi</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Medical Genetics and Skeletal Rare Diseases, IRCCS Rizzoli Orthopaedic Institute (IOR), Bologna, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Medical Genetics and Skeletal Rare Diseases, IRCCS Rizzoli Orthopaedic Institute (IOR), Bologna</wicri:regionArea>
<wicri:noRegion>Bologna</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Savarirayan, Ravi" sort="Savarirayan, Ravi" uniqKey="Savarirayan R" first="Ravi" last="Savarirayan">Ravi Savarirayan</name>
<affiliation wicri:level="4">
<nlm:affiliation>Murdoch Childrens Research Institute and University of Melbourne, Parkville, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Murdoch Childrens Research Institute and University of Melbourne, Parkville</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName>
<settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name>
<affiliation wicri:level="4">
<nlm:affiliation>Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School, Sydney Medical School, University of Sydney, Head Connective Tissue Dysplasia Management Service, The Children's Hospital at Westmead, Sydney, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School, Sydney Medical School, University of Sydney, Head Connective Tissue Dysplasia Management Service, The Children's Hospital at Westmead, Sydney</wicri:regionArea>
<placeName>
<settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
<settlement type="city">Sydney</settlement>
</placeName>
<orgName type="university">Université de Sydney</orgName>
</affiliation>
</author>
<author>
<name sortKey="Spranger, Jurgen" sort="Spranger, Jurgen" uniqKey="Spranger J" first="Jürgen" last="Spranger">Jürgen Spranger</name>
<affiliation wicri:level="1">
<nlm:affiliation>Sinzheim, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Sinzheim</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Superti Furga, Andrea" sort="Superti Furga, Andrea" uniqKey="Superti Furga A" first="Andrea" last="Superti-Furga">Andrea Superti-Furga</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Pediatrics,, CHUV, University of Lausanne, Switzerland.</nlm:affiliation>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Department of Pediatrics,, CHUV, University of Lausanne</wicri:regionArea>
<wicri:noRegion>University of Lausanne</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Warman, Matthew" sort="Warman, Matthew" uniqKey="Warman M" first="Matthew" last="Warman">Matthew Warman</name>
<affiliation>
<nlm:affiliation>Orthopaedic Research Laboratories, Boston Children's Hospital Boston.</nlm:affiliation>
<wicri:noCountry code="subField">Boston Children's Hospital Boston</wicri:noCountry>
</affiliation>
</author>
<author>
<name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name>
<affiliation wicri:level="1">
<nlm:affiliation>Medical Genetics Service,, CHUV, University of Lausanne, Switzerland.</nlm:affiliation>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Medical Genetics Service,, CHUV, University of Lausanne</wicri:regionArea>
<wicri:noRegion>University of Lausanne</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt>
<idno type="wicri:source">PubMed</idno>
<date when="2015">2015</date>
<idno type="RBID">pubmed:26394607</idno>
<idno type="pmid">26394607</idno>
<idno type="doi">10.1002/ajmg.a.37365</idno>
<idno type="wicri:Area/PubMed/Corpus">002672</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002672</idno>
<idno type="wicri:Area/PubMed/Curation">002603</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002603</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002603</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002603</idno>
</publicationStmt>
<sourceDesc>
<biblStruct>
<analytic>
<title xml:lang="en">Nosology and classification of genetic skeletal disorders: 2015 revision.</title>
<author>
<name sortKey="Bonafe, Luisa" sort="Bonafe, Luisa" uniqKey="Bonafe L" first="Luisa" last="Bonafe">Luisa Bonafe</name>
<affiliation wicri:level="1">
<nlm:affiliation>Centre des Maladies Moléculaires CHUV, University of Lausanne, Switzerland.</nlm:affiliation>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Centre des Maladies Moléculaires CHUV, University of Lausanne</wicri:regionArea>
<wicri:noRegion>University of Lausanne</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name>
<affiliation wicri:level="3">
<nlm:affiliation>IMAGINE Institute, Hôpital Necker Enfants Malade, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>IMAGINE Institute, Hôpital Necker Enfants Malade, Paris</wicri:regionArea>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Hall, Christine" sort="Hall, Christine" uniqKey="Hall C" first="Christine" last="Hall">Christine Hall</name>
<affiliation wicri:level="3">
<nlm:affiliation>Department of Radiology, Great Ormond Street Hospital, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Radiology, Great Ormond Street Hospital, London</wicri:regionArea>
<placeName>
<settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Lachman, Ralph" sort="Lachman, Ralph" uniqKey="Lachman R" first="Ralph" last="Lachman">Ralph Lachman</name>
<affiliation wicri:level="2">
<nlm:affiliation>International Skeletal Dysplasia Registry, University of California, Los Angeles, California.</nlm:affiliation>
<country>États-Unis</country>
<placeName>
<region type="state">Californie</region>
</placeName>
<wicri:cityArea>International Skeletal Dysplasia Registry, University of California, Los Angeles</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp</wicri:regionArea>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Mundlos, Stefan" sort="Mundlos, Stefan" uniqKey="Mundlos S" first="Stefan" last="Mundlos">Stefan Mundlos</name>
<affiliation wicri:level="3">
<nlm:affiliation>Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin</wicri:regionArea>
<placeName>
<region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Nishimura, Gen" sort="Nishimura, Gen" uniqKey="Nishimura G" first="Gen" last="Nishimura">Gen Nishimura</name>
<affiliation wicri:level="3">
<nlm:affiliation>Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo</wicri:regionArea>
<placeName>
<settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Sangiorgi, Luca" sort="Sangiorgi, Luca" uniqKey="Sangiorgi L" first="Luca" last="Sangiorgi">Luca Sangiorgi</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Medical Genetics and Skeletal Rare Diseases, IRCCS Rizzoli Orthopaedic Institute (IOR), Bologna, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Medical Genetics and Skeletal Rare Diseases, IRCCS Rizzoli Orthopaedic Institute (IOR), Bologna</wicri:regionArea>
<wicri:noRegion>Bologna</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Savarirayan, Ravi" sort="Savarirayan, Ravi" uniqKey="Savarirayan R" first="Ravi" last="Savarirayan">Ravi Savarirayan</name>
<affiliation wicri:level="4">
<nlm:affiliation>Murdoch Childrens Research Institute and University of Melbourne, Parkville, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Murdoch Childrens Research Institute and University of Melbourne, Parkville</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName>
<settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name>
<affiliation wicri:level="4">
<nlm:affiliation>Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School, Sydney Medical School, University of Sydney, Head Connective Tissue Dysplasia Management Service, The Children's Hospital at Westmead, Sydney, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School, Sydney Medical School, University of Sydney, Head Connective Tissue Dysplasia Management Service, The Children's Hospital at Westmead, Sydney</wicri:regionArea>
<placeName>
<settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
<settlement type="city">Sydney</settlement>
</placeName>
<orgName type="university">Université de Sydney</orgName>
</affiliation>
</author>
<author>
<name sortKey="Spranger, Jurgen" sort="Spranger, Jurgen" uniqKey="Spranger J" first="Jürgen" last="Spranger">Jürgen Spranger</name>
<affiliation wicri:level="1">
<nlm:affiliation>Sinzheim, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Sinzheim</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Superti Furga, Andrea" sort="Superti Furga, Andrea" uniqKey="Superti Furga A" first="Andrea" last="Superti-Furga">Andrea Superti-Furga</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Pediatrics,, CHUV, University of Lausanne, Switzerland.</nlm:affiliation>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Department of Pediatrics,, CHUV, University of Lausanne</wicri:regionArea>
<wicri:noRegion>University of Lausanne</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Warman, Matthew" sort="Warman, Matthew" uniqKey="Warman M" first="Matthew" last="Warman">Matthew Warman</name>
<affiliation>
<nlm:affiliation>Orthopaedic Research Laboratories, Boston Children's Hospital Boston.</nlm:affiliation>
<wicri:noCountry code="subField">Boston Children's Hospital Boston</wicri:noCountry>
</affiliation>
</author>
<author>
<name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name>
<affiliation wicri:level="1">
<nlm:affiliation>Medical Genetics Service,, CHUV, University of Lausanne, Switzerland.</nlm:affiliation>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Medical Genetics Service,, CHUV, University of Lausanne</wicri:regionArea>
<wicri:noRegion>University of Lausanne</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series>
<title level="j">American journal of medical genetics. Part A</title>
<idno type="eISSN">1552-4833</idno>
<imprint>
<date when="2015" type="published">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Bone Diseases (classification)</term>
<term>Bone Diseases (genetics)</term>
<term>Genetic Diseases, Inborn (classification)</term>
<term>Humans</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr">
<term>Humains</term>
<term>Maladies génétiques congénitales ()</term>
<term>Maladies osseuses ()</term>
<term>Maladies osseuses (génétique)</term>
</keywords>
<keywords scheme="MESH" qualifier="classification" xml:lang="en">
<term>Bone Diseases</term>
<term>Genetic Diseases, Inborn</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Bone Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr">
<term>Maladies osseuses</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Humans</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr">
<term>Humains</term>
<term>Maladies génétiques congénitales</term>
<term>Maladies osseuses</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">The purpose of the nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or newly recognized conditions. This is the 9th edition of the nosology and in comparison with its predecessor there are fewer conditions but many new genes. In previous editions, diagnoses that were phenotypically indistinguishable but genetically heterogenous were listed separately but we felt this was an unnecessary distinction. Thus the overall number of disorders has decreased from 456 to 436 but the number of groups has increased to 42 and the number of genes to 364. The nosology may become increasingly important today and tomorrow in the era of big data when the question for the geneticist is often whether a mutation identified by next generation sequencing technology in a particular gene can explain the clinical and radiological phenotype of their patient. This can be particularly difficult to answer conclusively in the prenatal setting. Personalized medicine emphasizes the importance of tailoring diagnosis and therapy to the individual but for our patients with rare skeletal disorders, the importance of tapping into a resource where genetic data can be centralized and made available should not be forgotten or underestimated. The nosology can also serve as a reference for the creation of locus-specific databases that are expected to help in delineating genotype-phenotype correlations and to harbor the information that will be gained by combining clinical observations and next generation sequencing results.</div>
</front>
</TEI>
<pubmed>
<MedlineCitation Status="MEDLINE" Owner="NLM">
<PMID Version="1">26394607</PMID>
<DateCreated>
<Year>2016</Year>
<Month>01</Month>
<Day>15</Day>
</DateCreated>
<DateCompleted>
<Year>2016</Year>
<Month>10</Month>
<Day>17</Day>
</DateCompleted>
<DateRevised>
<Year>2016</Year>
<Month>12</Month>
<Day>30</Day>
</DateRevised>
<Article PubModel="Print-Electronic">
<Journal>
<ISSN IssnType="Electronic">1552-4833</ISSN>
<JournalIssue CitedMedium="Internet">
<Volume>167A</Volume>
<Issue>12</Issue>
<PubDate>
<Year>2015</Year>
<Month>Dec</Month>
</PubDate>
</JournalIssue>
<Title>American journal of medical genetics. Part A</Title>
<ISOAbbreviation>Am. J. Med. Genet. A</ISOAbbreviation>
</Journal>
<ArticleTitle>Nosology and classification of genetic skeletal disorders: 2015 revision.</ArticleTitle>
<Pagination>
<MedlinePgn>2869-92</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/ajmg.a.37365</ELocationID>
<Abstract>
<AbstractText>The purpose of the nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or newly recognized conditions. This is the 9th edition of the nosology and in comparison with its predecessor there are fewer conditions but many new genes. In previous editions, diagnoses that were phenotypically indistinguishable but genetically heterogenous were listed separately but we felt this was an unnecessary distinction. Thus the overall number of disorders has decreased from 456 to 436 but the number of groups has increased to 42 and the number of genes to 364. The nosology may become increasingly important today and tomorrow in the era of big data when the question for the geneticist is often whether a mutation identified by next generation sequencing technology in a particular gene can explain the clinical and radiological phenotype of their patient. This can be particularly difficult to answer conclusively in the prenatal setting. Personalized medicine emphasizes the importance of tailoring diagnosis and therapy to the individual but for our patients with rare skeletal disorders, the importance of tapping into a resource where genetic data can be centralized and made available should not be forgotten or underestimated. The nosology can also serve as a reference for the creation of locus-specific databases that are expected to help in delineating genotype-phenotype correlations and to harbor the information that will be gained by combining clinical observations and next generation sequencing results.</AbstractText>
<CopyrightInformation>© 2015 Wiley Periodicals, Inc.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y">
<Author ValidYN="Y">
<LastName>Bonafe</LastName>
<ForeName>Luisa</ForeName>
<Initials>L</Initials>
<AffiliationInfo>
<Affiliation>Centre des Maladies Moléculaires CHUV, University of Lausanne, Switzerland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Cormier-Daire</LastName>
<ForeName>Valerie</ForeName>
<Initials>V</Initials>
<AffiliationInfo>
<Affiliation>IMAGINE Institute, Hôpital Necker Enfants Malade, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Hall</LastName>
<ForeName>Christine</ForeName>
<Initials>C</Initials>
<AffiliationInfo>
<Affiliation>Department of Radiology, Great Ormond Street Hospital, London, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Lachman</LastName>
<ForeName>Ralph</ForeName>
<Initials>R</Initials>
<AffiliationInfo>
<Affiliation>International Skeletal Dysplasia Registry, University of California, Los Angeles, California.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Mortier</LastName>
<ForeName>Geert</ForeName>
<Initials>G</Initials>
<AffiliationInfo>
<Affiliation>Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Mundlos</LastName>
<ForeName>Stefan</ForeName>
<Initials>S</Initials>
<AffiliationInfo>
<Affiliation>Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Nishimura</LastName>
<ForeName>Gen</ForeName>
<Initials>G</Initials>
<AffiliationInfo>
<Affiliation>Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Sangiorgi</LastName>
<ForeName>Luca</ForeName>
<Initials>L</Initials>
<AffiliationInfo>
<Affiliation>Department of Medical Genetics and Skeletal Rare Diseases, IRCCS Rizzoli Orthopaedic Institute (IOR), Bologna, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Savarirayan</LastName>
<ForeName>Ravi</ForeName>
<Initials>R</Initials>
<AffiliationInfo>
<Affiliation>Murdoch Childrens Research Institute and University of Melbourne, Parkville, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Sillence</LastName>
<ForeName>David</ForeName>
<Initials>D</Initials>
<AffiliationInfo>
<Affiliation>Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School, Sydney Medical School, University of Sydney, Head Connective Tissue Dysplasia Management Service, The Children's Hospital at Westmead, Sydney, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Spranger</LastName>
<ForeName>Jürgen</ForeName>
<Initials>J</Initials>
<AffiliationInfo>
<Affiliation>Sinzheim, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Superti-Furga</LastName>
<ForeName>Andrea</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>Department of Pediatrics,, CHUV, University of Lausanne, Switzerland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Warman</LastName>
<ForeName>Matthew</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>Orthopaedic Research Laboratories, Boston Children's Hospital Boston.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Unger</LastName>
<ForeName>Sheila</ForeName>
<Initials>S</Initials>
<AffiliationInfo>
<Affiliation>Medical Genetics Service,, CHUV, University of Lausanne, Switzerland.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList>
<PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic">
<Year>2015</Year>
<Month>09</Month>
<Day>23</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo>
<Country>United States</Country>
<MedlineTA>Am J Med Genet A</MedlineTA>
<NlmUniqueID>101235741</NlmUniqueID>
<ISSNLinking>1552-4825</ISSNLinking>
</MedlineJournalInfo>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList>
<MeshHeading>
<DescriptorName UI="D001847" MajorTopicYN="N">Bone Diseases</DescriptorName>
<QualifierName UI="Q000145" MajorTopicYN="Y">classification</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D030342" MajorTopicYN="N">Genetic Diseases, Inborn</DescriptorName>
<QualifierName UI="Q000145" MajorTopicYN="Y">classification</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<KeywordList Owner="NOTNLM">
<Keyword MajorTopicYN="N">dwarfism</Keyword>
<Keyword MajorTopicYN="N">molecular basis of disease</Keyword>
<Keyword MajorTopicYN="N">nosology</Keyword>
<Keyword MajorTopicYN="N">skeletal dysplasias</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData>
<History>
<PubMedPubDate PubStatus="received">
<Year>2015</Year>
<Month>07</Month>
<Day>03</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted">
<Year>2015</Year>
<Month>08</Month>
<Day>27</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez">
<Year>2015</Year>
<Month>9</Month>
<Day>24</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed">
<Year>2015</Year>
<Month>9</Month>
<Day>24</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline">
<Year>2016</Year>
<Month>10</Month>
<Day>19</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList>
<ArticleId IdType="pubmed">26394607</ArticleId>
<ArticleId IdType="doi">10.1002/ajmg.a.37365</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations>
<list>
<country>
<li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>France</li>
<li>Italie</li>
<li>Japon</li>
<li>Royaume-Uni</li>
<li>Suisse</li>
<li>États-Unis</li>
</country>
<region>
<li>Angleterre</li>
<li>Berlin</li>
<li>Californie</li>
<li>Grand Londres</li>
<li>Nouvelle-Galles du Sud</li>
<li>Région de Kantō</li>
<li>Victoria (État)</li>
<li>Île-de-France</li>
</region>
<settlement>
<li>Berlin</li>
<li>Londres</li>
<li>Melbourne</li>
<li>Paris</li>
<li>Sydney</li>
<li>Tokyo</li>
</settlement>
<orgName>
<li>Université de Melbourne</li>
<li>Université de Sydney</li>
</orgName>
</list>
<tree>
<noCountry>
<name sortKey="Warman, Matthew" sort="Warman, Matthew" uniqKey="Warman M" first="Matthew" last="Warman">Matthew Warman</name>
</noCountry>
<country name="Suisse">
<noRegion>
<name sortKey="Bonafe, Luisa" sort="Bonafe, Luisa" uniqKey="Bonafe L" first="Luisa" last="Bonafe">Luisa Bonafe</name>
</noRegion>
<name sortKey="Superti Furga, Andrea" sort="Superti Furga, Andrea" uniqKey="Superti Furga A" first="Andrea" last="Superti-Furga">Andrea Superti-Furga</name>
<name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name>
</country>
<country name="France">
<region name="Île-de-France">
<name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name>
</region>
</country>
<country name="Royaume-Uni">
<region name="Angleterre">
<name sortKey="Hall, Christine" sort="Hall, Christine" uniqKey="Hall C" first="Christine" last="Hall">Christine Hall</name>
</region>
</country>
<country name="États-Unis">
<region name="Californie">
<name sortKey="Lachman, Ralph" sort="Lachman, Ralph" uniqKey="Lachman R" first="Ralph" last="Lachman">Ralph Lachman</name>
</region>
</country>
<country name="Belgique">
<noRegion>
<name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name>
</noRegion>
</country>
<country name="Allemagne">
<region name="Berlin">
<name sortKey="Mundlos, Stefan" sort="Mundlos, Stefan" uniqKey="Mundlos S" first="Stefan" last="Mundlos">Stefan Mundlos</name>
</region>
<name sortKey="Spranger, Jurgen" sort="Spranger, Jurgen" uniqKey="Spranger J" first="Jürgen" last="Spranger">Jürgen Spranger</name>
</country>
<country name="Japon">
<region name="Région de Kantō">
<name sortKey="Nishimura, Gen" sort="Nishimura, Gen" uniqKey="Nishimura G" first="Gen" last="Nishimura">Gen Nishimura</name>
</region>
</country>
<country name="Italie">
<noRegion>
<name sortKey="Sangiorgi, Luca" sort="Sangiorgi, Luca" uniqKey="Sangiorgi L" first="Luca" last="Sangiorgi">Luca Sangiorgi</name>
</noRegion>
</country>
<country name="Australie">
<region name="Victoria (État)">
<name sortKey="Savarirayan, Ravi" sort="Savarirayan, Ravi" uniqKey="Savarirayan R" first="Ravi" last="Savarirayan">Ravi Savarirayan</name>
</region>
<name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/PubMed/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002904 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 002904 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    PubMed
   |étape=   Checkpoint
   |type=    RBID
   |clé=     pubmed:26394607
   |texte=   Nosology and classification of genetic skeletal disorders: 2015 revision.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i   -Sk "pubmed:26394607" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd   \
       | NlmPubMed2Wicri -a AustralieFrV1 

Wicri

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024