The Male Phenotype in Osteopathia Striata Congenita With Cranial Sclerosis
Identifieur interne : 004651 ( PascalFrancis/Curation ); précédent : 004650; suivant : 004652The Male Phenotype in Osteopathia Striata Congenita With Cranial Sclerosis
Auteurs : Sarah K. Holman [Nouvelle-Zélande] ; Phil Daniel [Nouvelle-Zélande] ; Zandra A. Jenkins [Nouvelle-Zélande] ; Rachel L. Herron [Nouvelle-Zélande] ; Tim Morgan [Nouvelle-Zélande] ; Ravi Savarirayan [Australie] ; C. W. Chow [Australie] ; Axel Bohring [Allemagne] ; Annette Mosel [Allemagne] ; Didier Lacombe [France] ; Bernhard Steiner [Suisse] ; Thomas Schmitt-Mechelke [Suisse] ; Barbara Schroter [Suisse] ; Annick Raas-Rothschild [Nouvelle-Zélande] ; Sixto Garcia Minaur [Royaume-Uni] ; Mary Porteous [Royaume-Uni] ; Michael Parker [Royaume-Uni] ; Oliver Quarrell [Royaume-Uni] ; Dagmar Tapon [États-Unis] ; Valérie Cormier-Daire [France] ; Sahar Mansour [Royaume-Uni] ; Ruth Nash [Royaume-Uni] ; Laurence A. Bindoff [Norvège] ; Torunn Fiskerstrand [Norvège] ; Stephen P. Robertson [Nouvelle-Zélande]Source :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2011.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Osteopathia striata with cranial sclerosis (OSCS) is an X-linked disease caused by truncating mutations in WTX. Females exhibit sclerotic striations on the long bones, cranial sclerosis, and craniofacial dysmorphism. Males with OSCS have significant skeletal sclerosis, do not have striations but do display a more severe phenotype commonly associated with gross structural malformations, patterning defects, and significant pre- and postnatal lethality. The recent description of mutations in WTX underlying OSCS has led to the identification of a milder, survivable phenotype in males. Individuals with this presentation can have, in addition to skeletal sclerosis, Hirschsprung disease, joint contractures, cardiomyopathy, and neuromuscular anomalies. A diagnosis of OSCS should be considered in males with macrocephaly, skeletal sclerosis that is most marked in the cranium and the absence of metaphyseal striations. The observation of striations in males may be indicative of a WTXmutation in a mosaic state supporting the contention that this sign in females is indicative of the differential lyonization of cells in the osteoblastic lineage.
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Holman</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country></affiliation></author><author><name sortKey="Daniel, Phil" sort="Daniel, Phil" uniqKey="Daniel P" first="Phil" last="Daniel">Phil Daniel</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country></affiliation></author><author><name sortKey="Jenkins, Zandra A" sort="Jenkins, Zandra A" uniqKey="Jenkins Z" first="Zandra A." last="Jenkins">Zandra A. 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W." last="Chow">C. W. Chow</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pathology, University of Melbourne</s1><s3>AUS</s3><sZ>7 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author><author><name sortKey="Bohring, Axel" sort="Bohring, Axel" uniqKey="Bohring A" first="Axel" last="Bohring">Axel Bohring</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Institut für Humangenetik, Westfälische Wilhelms-Universität</s1><s2>Munster</s2><s3>DEU</s3><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Mosel, Annette" sort="Mosel, Annette" uniqKey="Mosel A" first="Annette" last="Mosel">Annette Mosel</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Abteilung für Pränatale Diagnostik, Klinikum Osnabrück</s1><s2>Osnabrück</s2><s3>DEU</s3><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Génétiqué Médicale, CHU de Bordeaux, Université de Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>10 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Steiner, Bernhard" sort="Steiner, Bernhard" uniqKey="Steiner B" first="Bernhard" last="Steiner">Bernhard Steiner</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Medical Genetics, University of Zurich</s1><s2>Zurich</s2><s3>CHE</s3><sZ>11 aut.</sZ></inist:fA14><country>Suisse</country></affiliation></author><author><name sortKey="Schmitt Mechelke, Thomas" sort="Schmitt Mechelke, Thomas" uniqKey="Schmitt Mechelke T" first="Thomas" last="Schmitt-Mechelke">Thomas Schmitt-Mechelke</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Division of Neuropaediatrics, Children's Hospital, Cantonal Hospital</s1><s2>6016 Luzern</s2><s3>CHE</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Suisse</country></affiliation></author><author><name sortKey="Schroter, Barbara" sort="Schroter, Barbara" uniqKey="Schroter B" first="Barbara" last="Schroter">Barbara Schroter</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Division of Neuropaediatrics, Children's Hospital, Cantonal Hospital</s1><s2>6016 Luzern</s2><s3>CHE</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Suisse</country></affiliation></author><author><name sortKey="Raas Rothschild, Annick" sort="Raas Rothschild, Annick" uniqKey="Raas Rothschild A" first="Annick" last="Raas-Rothschild">Annick Raas-Rothschild</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Human Genetics and Metabolic Diseases, Hadassah Hebrew University Hospital</s1><s2>Jerusalem</s2><s3>NZL</s3><sZ>14 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country></affiliation></author><author><name sortKey="Minaur, Sixto Garcia" sort="Minaur, Sixto Garcia" uniqKey="Minaur S" first="Sixto Garcia" last="Minaur">Sixto Garcia Minaur</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>South East Scotland Genetics Service, Western General Hospital</s1><s2>Edinburgh</s2><s3>GBR</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Porteous, Mary" sort="Porteous, Mary" uniqKey="Porteous M" first="Mary" last="Porteous">Mary Porteous</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>South East Scotland Genetics Service, Western General Hospital</s1><s2>Edinburgh</s2><s3>GBR</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Parker, Michael" sort="Parker, Michael" uniqKey="Parker M" first="Michael" last="Parker">Michael Parker</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Medical Genetics, Sheffield Children's Hospital</s1><s2>Sheffield</s2><s3>GBR</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Medical Genetics, Sheffield Children's Hospital</s1><s2>Sheffield</s2><s3>GBR</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Tapon, Dagmar" sort="Tapon, Dagmar" uniqKey="Tapon D" first="Dagmar" last="Tapon">Dagmar Tapon</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital</s1><s2>London</s2><s3>USA</s3><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Département de Génétique, Hôpital Necker-Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>20 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>SW Thames Regional Genetics Service, St George's Hospital, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>21 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Nash, Ruth" sort="Nash, Ruth" uniqKey="Nash R" first="Ruth" last="Nash">Ruth Nash</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Department of Cellular Pathology, St George's Hospital, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>22 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Bindoff, Laurence A" sort="Bindoff, Laurence A" uniqKey="Bindoff L" first="Laurence A." last="Bindoff">Laurence A. Bindoff</name><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Department of Neurology, Haukeland University Hospital and Department of Clinical Medicine, University of Bergen</s1><s2>Bergen</s2><s3>NOR</s3><sZ>23 aut.</sZ></inist:fA14><country>Norvège</country></affiliation></author><author><name sortKey="Fiskerstrand, Torunn" sort="Fiskerstrand, Torunn" uniqKey="Fiskerstrand T" first="Torunn" last="Fiskerstrand">Torunn Fiskerstrand</name><affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital and Department for Clinical Genetics, University of, Bergen</s1><s2>Bergen</s2><s3>NOR</s3><sZ>24 aut.</sZ></inist:fA14><country>Norvège</country></affiliation></author><author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">11-0448726</idno><date when="2011">2011</date><idno type="stanalyst">PASCAL 11-0448726 INIST</idno><idno type="RBID">Pascal:11-0448726</idno><idno type="wicri:Area/PascalFrancis/Corpus">001905</idno><idno type="wicri:Area/PascalFrancis/Curation">004651</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The Male Phenotype in Osteopathia Striata Congenita With Cranial Sclerosis</title><author><name sortKey="Holman, Sarah K" sort="Holman, Sarah K" uniqKey="Holman S" first="Sarah K." last="Holman">Sarah K. Holman</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country></affiliation></author><author><name sortKey="Daniel, Phil" sort="Daniel, Phil" uniqKey="Daniel P" first="Phil" last="Daniel">Phil Daniel</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country></affiliation></author><author><name sortKey="Jenkins, Zandra A" sort="Jenkins, Zandra A" uniqKey="Jenkins Z" first="Zandra A." last="Jenkins">Zandra A. Jenkins</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country></affiliation></author><author><name sortKey="Herron, Rachel L" sort="Herron, Rachel L" uniqKey="Herron R" first="Rachel L." last="Herron">Rachel L. Herron</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country></affiliation></author><author><name sortKey="Morgan, Tim" sort="Morgan, Tim" uniqKey="Morgan T" first="Tim" last="Morgan">Tim Morgan</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country></affiliation></author><author><name sortKey="Savarirayan, Ravi" sort="Savarirayan, Ravi" uniqKey="Savarirayan R" first="Ravi" last="Savarirayan">Ravi Savarirayan</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Paediatrics, University of Melbourne</s1><s3>AUS</s3><sZ>6 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author><author><name sortKey="Chow, C W" sort="Chow, C W" uniqKey="Chow C" first="C. W." last="Chow">C. W. Chow</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pathology, University of Melbourne</s1><s3>AUS</s3><sZ>7 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author><author><name sortKey="Bohring, Axel" sort="Bohring, Axel" uniqKey="Bohring A" first="Axel" last="Bohring">Axel Bohring</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Institut für Humangenetik, Westfälische Wilhelms-Universität</s1><s2>Munster</s2><s3>DEU</s3><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Mosel, Annette" sort="Mosel, Annette" uniqKey="Mosel A" first="Annette" last="Mosel">Annette Mosel</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Abteilung für Pränatale Diagnostik, Klinikum Osnabrück</s1><s2>Osnabrück</s2><s3>DEU</s3><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Génétiqué Médicale, CHU de Bordeaux, Université de Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>10 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Steiner, Bernhard" sort="Steiner, Bernhard" uniqKey="Steiner B" first="Bernhard" last="Steiner">Bernhard Steiner</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Medical Genetics, University of Zurich</s1><s2>Zurich</s2><s3>CHE</s3><sZ>11 aut.</sZ></inist:fA14><country>Suisse</country></affiliation></author><author><name sortKey="Schmitt Mechelke, Thomas" sort="Schmitt Mechelke, Thomas" uniqKey="Schmitt Mechelke T" first="Thomas" last="Schmitt-Mechelke">Thomas Schmitt-Mechelke</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Division of Neuropaediatrics, Children's Hospital, Cantonal Hospital</s1><s2>6016 Luzern</s2><s3>CHE</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Suisse</country></affiliation></author><author><name sortKey="Schroter, Barbara" sort="Schroter, Barbara" uniqKey="Schroter B" first="Barbara" last="Schroter">Barbara Schroter</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Division of Neuropaediatrics, Children's Hospital, Cantonal Hospital</s1><s2>6016 Luzern</s2><s3>CHE</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Suisse</country></affiliation></author><author><name sortKey="Raas Rothschild, Annick" sort="Raas Rothschild, Annick" uniqKey="Raas Rothschild A" first="Annick" last="Raas-Rothschild">Annick Raas-Rothschild</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Human Genetics and Metabolic Diseases, Hadassah Hebrew University Hospital</s1><s2>Jerusalem</s2><s3>NZL</s3><sZ>14 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country></affiliation></author><author><name sortKey="Minaur, Sixto Garcia" sort="Minaur, Sixto Garcia" uniqKey="Minaur S" first="Sixto Garcia" last="Minaur">Sixto Garcia Minaur</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>South East Scotland Genetics Service, Western General Hospital</s1><s2>Edinburgh</s2><s3>GBR</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Porteous, Mary" sort="Porteous, Mary" uniqKey="Porteous M" first="Mary" last="Porteous">Mary Porteous</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>South East Scotland Genetics Service, Western General Hospital</s1><s2>Edinburgh</s2><s3>GBR</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Parker, Michael" sort="Parker, Michael" uniqKey="Parker M" first="Michael" last="Parker">Michael Parker</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Medical Genetics, Sheffield Children's Hospital</s1><s2>Sheffield</s2><s3>GBR</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Medical Genetics, Sheffield Children's Hospital</s1><s2>Sheffield</s2><s3>GBR</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Tapon, Dagmar" sort="Tapon, Dagmar" uniqKey="Tapon D" first="Dagmar" last="Tapon">Dagmar Tapon</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital</s1><s2>London</s2><s3>USA</s3><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Département de Génétique, Hôpital Necker-Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>20 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>SW Thames Regional Genetics Service, St George's Hospital, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>21 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Nash, Ruth" sort="Nash, Ruth" uniqKey="Nash R" first="Ruth" last="Nash">Ruth Nash</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Department of Cellular Pathology, St George's Hospital, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>22 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Bindoff, Laurence A" sort="Bindoff, Laurence A" uniqKey="Bindoff L" first="Laurence A." last="Bindoff">Laurence A. Bindoff</name><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Department of Neurology, Haukeland University Hospital and Department of Clinical Medicine, University of Bergen</s1><s2>Bergen</s2><s3>NOR</s3><sZ>23 aut.</sZ></inist:fA14><country>Norvège</country></affiliation></author><author><name sortKey="Fiskerstrand, Torunn" sort="Fiskerstrand, Torunn" uniqKey="Fiskerstrand T" first="Torunn" last="Fiskerstrand">Torunn Fiskerstrand</name><affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital and Department for Clinical Genetics, University of, Bergen</s1><s2>Bergen</s2><s3>NOR</s3><sZ>24 aut.</sZ></inist:fA14><country>Norvège</country></affiliation></author><author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country></affiliation></author></analytic><series><title level="j" type="main">American journal of medical genetics. Part A</title><title level="j" type="abbreviated">Am. j. med. genet., Part A</title><idno type="ISSN">1552-4825</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">American journal of medical genetics. Part A</title><title level="j" type="abbreviated">Am. j. med. genet., Part A</title><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Bone</term><term>Dysplasia</term><term>Male</term><term>Osteopathia striata</term><term>Phenotype</term><term>Sclerosis</term><term>Skeleton</term><term>Skull</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ostéopathie striée de Voorhoeve</term><term>Dysplasie</term><term>Mâle</term><term>Phénotype</term><term>Crâne</term><term>Sclérose</term><term>Os</term><term>Squelette</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Osteopathia striata with cranial sclerosis (OSCS) is an X-linked disease caused by truncating mutations in WTX. Females exhibit sclerotic striations on the long bones, cranial sclerosis, and craniofacial dysmorphism. Males with OSCS have significant skeletal sclerosis, do not have striations but do display a more severe phenotype commonly associated with gross structural malformations, patterning defects, and significant pre- and postnatal lethality. The recent description of mutations in WTX underlying OSCS has led to the identification of a milder, survivable phenotype in males. Individuals with this presentation can have, in addition to skeletal sclerosis, Hirschsprung disease, joint contractures, cardiomyopathy, and neuromuscular anomalies. A diagnosis of OSCS should be considered in males with macrocephaly, skeletal sclerosis that is most marked in the cranium and the absence of metaphyseal striations. The observation of striations in males may be indicative of a WTXmutation in a mosaic state supporting the contention that this sign in females is indicative of the differential lyonization of cells in the osteoblastic lineage.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>1552-4825</s0></fA01><fA03 i2="1"><s0>Am. j. med. genet., Part A</s0></fA03><fA05><s2>155</s2></fA05><fA06><s2>10</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>The Male Phenotype in Osteopathia Striata Congenita With Cranial Sclerosis</s1></fA08><fA11 i1="01" i2="1"><s1>HOLMAN (Sarah K.)</s1></fA11><fA11 i1="02" i2="1"><s1>DANIEL (Phil)</s1></fA11><fA11 i1="03" i2="1"><s1>JENKINS (Zandra A.)</s1></fA11><fA11 i1="04" i2="1"><s1>HERRON (Rachel L.)</s1></fA11><fA11 i1="05" i2="1"><s1>MORGAN (Tim)</s1></fA11><fA11 i1="06" i2="1"><s1>SAVARIRAYAN (Ravi)</s1></fA11><fA11 i1="07" i2="1"><s1>CHOW (C. W.)</s1></fA11><fA11 i1="08" i2="1"><s1>BOHRING (Axel)</s1></fA11><fA11 i1="09" i2="1"><s1>MOSEL (Annette)</s1></fA11><fA11 i1="10" i2="1"><s1>LACOMBE (Didier)</s1></fA11><fA11 i1="11" i2="1"><s1>STEINER (Bernhard)</s1></fA11><fA11 i1="12" i2="1"><s1>SCHMITT-MECHELKE (Thomas)</s1></fA11><fA11 i1="13" i2="1"><s1>SCHROTER (Barbara)</s1></fA11><fA11 i1="14" i2="1"><s1>RAAS-ROTHSCHILD (Annick)</s1></fA11><fA11 i1="15" i2="1"><s1>MINAUR (Sixto Garcia)</s1></fA11><fA11 i1="16" i2="1"><s1>PORTEOUS (Mary)</s1></fA11><fA11 i1="17" i2="1"><s1>PARKER (Michael)</s1></fA11><fA11 i1="18" i2="1"><s1>QUARRELL (Oliver)</s1></fA11><fA11 i1="19" i2="1"><s1>TAPON (Dagmar)</s1></fA11><fA11 i1="20" i2="1"><s1>CORMIER-DAIRE (Valérie)</s1></fA11><fA11 i1="21" i2="1"><s1>MANSOUR (Sahar)</s1></fA11><fA11 i1="22" i2="1"><s1>NASH (Ruth)</s1></fA11><fA11 i1="23" i2="1"><s1>BINDOFF (Laurence A.)</s1></fA11><fA11 i1="24" i2="1"><s1>FISKERSTRAND (Torunn)</s1></fA11><fA11 i1="25" i2="1"><s1>ROBERTSON (Stephen P.)</s1></fA11><fA14 i1="01"><s1>Department of Paediatrics, Dunedin School of Medicine, Otago University</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>25 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Paediatrics, University of Melbourne</s1><s3>AUS</s3><sZ>6 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Pathology, University of Melbourne</s1><s3>AUS</s3><sZ>7 aut.</sZ></fA14><fA14 i1="04"><s1>Institut für Humangenetik, Westfälische Wilhelms-Universität</s1><s2>Munster</s2><s3>DEU</s3><sZ>8 aut.</sZ></fA14><fA14 i1="05"><s1>Abteilung für Pränatale Diagnostik, Klinikum Osnabrück</s1><s2>Osnabrück</s2><s3>DEU</s3><sZ>9 aut.</sZ></fA14><fA14 i1="06"><s1>Génétiqué Médicale, CHU de Bordeaux, Université de Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>10 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Medical Genetics, University of Zurich</s1><s2>Zurich</s2><s3>CHE</s3><sZ>11 aut.</sZ></fA14><fA14 i1="08"><s1>Division of Neuropaediatrics, Children's Hospital, Cantonal Hospital</s1><s2>6016 Luzern</s2><s3>CHE</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="09"><s1>Department of Human Genetics and Metabolic Diseases, Hadassah Hebrew University Hospital</s1><s2>Jerusalem</s2><s3>NZL</s3><sZ>14 aut.</sZ></fA14><fA14 i1="10"><s1>South East Scotland Genetics Service, Western General Hospital</s1><s2>Edinburgh</s2><s3>GBR</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ></fA14><fA14 i1="11"><s1>Department of Medical Genetics, Sheffield Children's Hospital</s1><s2>Sheffield</s2><s3>GBR</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></fA14><fA14 i1="12"><s1>Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital</s1><s2>London</s2><s3>USA</s3><sZ>19 aut.</sZ></fA14><fA14 i1="13"><s1>Département de Génétique, Hôpital Necker-Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>20 aut.</sZ></fA14><fA14 i1="14"><s1>SW Thames Regional Genetics Service, St George's Hospital, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>21 aut.</sZ></fA14><fA14 i1="15"><s1>Department of Cellular Pathology, St George's Hospital, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>22 aut.</sZ></fA14><fA14 i1="16"><s1>Department of Neurology, Haukeland University Hospital and Department of Clinical Medicine, University of Bergen</s1><s2>Bergen</s2><s3>NOR</s3><sZ>23 aut.</sZ></fA14><fA14 i1="17"><s1>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital and Department for Clinical Genetics, University of, Bergen</s1><s2>Bergen</s2><s3>NOR</s3><sZ>24 aut.</sZ></fA14><fA20><s1>2397-2408</s1></fA20><fA21><s1>2011</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>17405A</s2><s5>354000509953080070</s5></fA43><fA44><s0>0000</s0><s1>© 2011 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>1 p.1/4</s0></fA45><fA47 i1="01" i2="1"><s0>11-0448726</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>American journal of medical genetics. Part A</s0></fA64><fA66 i1="01"><s0>GBR</s0></fA66><fC01 i1="01" l="ENG"><s0>Osteopathia striata with cranial sclerosis (OSCS) is an X-linked disease caused by truncating mutations in WTX. Females exhibit sclerotic striations on the long bones, cranial sclerosis, and craniofacial dysmorphism. Males with OSCS have significant skeletal sclerosis, do not have striations but do display a more severe phenotype commonly associated with gross structural malformations, patterning defects, and significant pre- and postnatal lethality. The recent description of mutations in WTX underlying OSCS has led to the identification of a milder, survivable phenotype in males. Individuals with this presentation can have, in addition to skeletal sclerosis, Hirschsprung disease, joint contractures, cardiomyopathy, and neuromuscular anomalies. A diagnosis of OSCS should be considered in males with macrocephaly, skeletal sclerosis that is most marked in the cranium and the absence of metaphyseal striations. The observation of striations in males may be indicative of a WTXmutation in a mosaic state supporting the contention that this sign in females is indicative of the differential lyonization of cells in the osteoblastic lineage.</s0></fC01><fC02 i1="01" i2="X"><s0>002B23</s0></fC02><fC02 i1="02" i2="X"><s0>002B15H</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Ostéopathie striée de Voorhoeve</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Osteopathia striata</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Osteopatía estriada Voorhoeve</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Dysplasie</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Dysplasia</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Displasia</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Mâle</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Male</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Macho</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Phénotype</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Phenotype</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Fenotipo</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Crâne</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Skull</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Cráneo</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Sclérose</s0><s5>12</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Sclerosis</s0><s5>12</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Esclerosis</s0><s5>12</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Os</s0><s5>13</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Bone</s0><s5>13</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Hueso</s0><s5>13</s5></fC03><fC03 i1="08" i2="X" l="FRE"><s0>Squelette</s0><s5>14</s5></fC03><fC03 i1="08" i2="X" l="ENG"><s0>Skeleton</s0><s5>14</s5></fC03><fC03 i1="08" i2="X" l="SPA"><s0>Esqueleto</s0><s5>14</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Ostéochondrodysplasie</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Osteochondrodysplasia</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Osteocondrodisplasia</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Pathologie du système ostéoarticulaire</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Diseases of the osteoarticular system</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Sistema osteoarticular patología</s0><s5>38</s5></fC07><fN21><s1>305</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
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