Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure
Identifieur interne : 004294 ( Main/Exploration ); précédent : 004293; suivant : 004295Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure
Auteurs : Charlotte L. Bendon [Royaume-Uni] ; Aimée L. Fenwick [Royaume-Uni] ; Jane A. Hurst [Royaume-Uni] ; Gudrun Nürnberg [Allemagne] ; Peter Nürnberg [Allemagne] ; Steven A. Wall [Royaume-Uni] ; Andrew Om Wilkie [Royaume-Uni] ; David Johnson [Royaume-Uni]Source :
- BMC Medical Genetics [ 1471-2350 ] ; 2012.
Abstract
Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the
We present a family of three affected siblings born to consanguineous parents with clinical features in keeping with a diagnosis of Frank-ter Haar syndrome. All three siblings have a novel mutation caused by the deletion of exon 13 of the
The clinical features of craniosynostosis and raised intracranial pressure in this family with a confirmed diagnosis of Frank-ter Haar syndrome expand the clinical spectrum of the disease. The abnormal cranial proportions in a mouse model of the disease suggests that the association is not coincidental. The possibility of craniosynostosis should be considered in individuals with a suspected diagnosis of Frank-ter Haar syndrome.
Url:
DOI: 10.1186/1471-2350-13-104
PubMed: 23140272
PubMed Central: 3532175
Affiliations:
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Bendon</name><affiliation wicri:level="1"><nlm:aff id="I1">Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, OX3 9DU, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, OX3 9DU</wicri:regionArea><wicri:noRegion>OX3 9DU</wicri:noRegion></affiliation></author><author><name sortKey="Fenwick, Aimee L" sort="Fenwick, Aimee L" uniqKey="Fenwick A" first="Aimée L" last="Fenwick">Aimée L. Fenwick</name><affiliation wicri:level="4"><nlm:aff id="I2">Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Weatherall Institute of Molecular Medicine, University of Oxford, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region><settlement type="city">Oxford</settlement></placeName><orgName type="university">Université d'Oxford</orgName></affiliation></author><author><name sortKey="Hurst, Jane A" sort="Hurst, Jane A" uniqKey="Hurst J" first="Jane A" last="Hurst">Jane A. Hurst</name><affiliation wicri:level="3"><nlm:aff id="I3">Department of Clinical Genetics, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="I7">Current address: Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, WC1N 3BH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Current address: Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, WC1N 3BH</wicri:regionArea><wicri:noRegion>WC1N 3BH</wicri:noRegion></affiliation></author><author><name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nürnberg">Gudrun Nürnberg</name><affiliation wicri:level="1"><nlm:aff id="I4">Cologne Center for Genomics, University of Cologne, Cologne, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><affiliation wicri:level="1"><nlm:aff id="I4">Cologne Center for Genomics, University of Cologne, Cologne, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="I5">Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="I6">Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Wall, Steven A" sort="Wall, Steven A" uniqKey="Wall S" first="Steven A" last="Wall">Steven A. Wall</name><affiliation wicri:level="1"><nlm:aff id="I1">Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, OX3 9DU, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, OX3 9DU</wicri:regionArea><wicri:noRegion>OX3 9DU</wicri:noRegion></affiliation></author><author><name sortKey="Wilkie, Andrew Om" sort="Wilkie, Andrew Om" uniqKey="Wilkie A" first="Andrew Om" last="Wilkie">Andrew Om Wilkie</name><affiliation wicri:level="1"><nlm:aff id="I1">Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, OX3 9DU, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, OX3 9DU</wicri:regionArea><wicri:noRegion>OX3 9DU</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="I2">Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Weatherall Institute of Molecular Medicine, University of Oxford, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region><settlement type="city">Oxford</settlement></placeName><orgName type="university">Université d'Oxford</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="I3">Department of Clinical Genetics, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Johnson, David" sort="Johnson, David" uniqKey="Johnson D" first="David" last="Johnson">David Johnson</name><affiliation wicri:level="1"><nlm:aff id="I1">Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, OX3 9DU, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, OX3 9DU</wicri:regionArea><wicri:noRegion>OX3 9DU</wicri:noRegion></affiliation></author></analytic><series><title level="j">BMC Medical Genetics</title><idno type="eISSN">1471-2350</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the <italic>SH3PXD2B</italic> gene on chromosome 5q35.1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome.</p></sec><sec><title>Case presentation</title><p>We present a family of three affected siblings born to consanguineous parents with clinical features in keeping with a diagnosis of Frank-ter Haar syndrome. All three siblings have a novel mutation caused by the deletion of exon 13 of the <italic>SH3PXD2B</italic> gene. Two of the three siblings also have non-scaphocephalic sagittal synostosis associated with raised intracranial pressure.</p></sec><sec><title>Conclusion</title><p>The clinical features of craniosynostosis and raised intracranial pressure in this family with a confirmed diagnosis of Frank-ter Haar syndrome expand the clinical spectrum of the disease. The abnormal cranial proportions in a mouse model of the disease suggests that the association is not coincidental. The possibility of craniosynostosis should be considered in individuals with a suspected diagnosis of Frank-ter Haar syndrome.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Maas, Sm" uniqKey="Maas S">SM Maas</name></author><author><name sortKey="Kayserili, H" uniqKey="Kayserili H">H Kayserili</name></author><author><name sortKey="Lam, J" uniqKey="Lam J">J Lam</name></author><author><name sortKey="Apak, My" uniqKey="Apak M">MY Apak</name></author><author><name sortKey="Hennekam, Rc" uniqKey="Hennekam R">RC Hennekam</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ter Haar, B" uniqKey="Ter Haar B">B ter Haar</name></author><author><name sortKey="Hamel, B" uniqKey="Hamel B">B Hamel</name></author><author><name sortKey="Hendriks, J" uniqKey="Hendriks J">J Hendriks</name></author><author><name sortKey="De Jager, J" uniqKey="De Jager J">J de 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Zheng</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Allemagne</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Oxfordshire</li></region><settlement><li>Oxford</li></settlement><orgName><li>Université d'Oxford</li></orgName></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Bendon, Charlotte L" sort="Bendon, Charlotte L" uniqKey="Bendon C" first="Charlotte L" last="Bendon">Charlotte L. Bendon</name></noRegion><name sortKey="Fenwick, Aimee L" sort="Fenwick, Aimee L" uniqKey="Fenwick A" first="Aimée L" last="Fenwick">Aimée L. Fenwick</name><name sortKey="Hurst, Jane A" sort="Hurst, Jane A" uniqKey="Hurst J" first="Jane A" last="Hurst">Jane A. Hurst</name><name sortKey="Hurst, Jane A" sort="Hurst, Jane A" uniqKey="Hurst J" first="Jane A" last="Hurst">Jane A. Hurst</name><name sortKey="Johnson, David" sort="Johnson, David" uniqKey="Johnson D" first="David" last="Johnson">David Johnson</name><name sortKey="Wall, Steven A" sort="Wall, Steven A" uniqKey="Wall S" first="Steven A" last="Wall">Steven A. Wall</name><name sortKey="Wilkie, Andrew Om" sort="Wilkie, Andrew Om" uniqKey="Wilkie A" first="Andrew Om" last="Wilkie">Andrew Om Wilkie</name><name sortKey="Wilkie, Andrew Om" sort="Wilkie, Andrew Om" uniqKey="Wilkie A" first="Andrew Om" last="Wilkie">Andrew Om Wilkie</name><name sortKey="Wilkie, Andrew Om" sort="Wilkie, Andrew Om" uniqKey="Wilkie A" first="Andrew Om" last="Wilkie">Andrew Om Wilkie</name></country><country name="Allemagne"><noRegion><name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nürnberg">Gudrun Nürnberg</name></noRegion><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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