Radiological evidence of Goldenhar syndrome in a paleopathological case from a South German ossuary.
Identifieur interne : 000902 ( Ncbi/Checkpoint ); précédent : 000901; suivant : 000903Radiological evidence of Goldenhar syndrome in a paleopathological case from a South German ossuary.
Auteurs : S. Panzer [Allemagne] ; M. Cohen ; U. Esch ; A G Nerlich ; A R ZinkSource :
- Homo : internationale Zeitschrift fur die vergleichende Forschung am Menschen [ 0018-442X ] ; 2008.
English descriptors
- KwdEn :
- Adolescent, Chorda Tympani Nerve, Facial Asymmetry (diagnostic imaging), Facial Nerve (pathology), Goldenhar Syndrome (diagnostic imaging), Goldenhar Syndrome (history), History, 15th Century, History, 16th Century, History, 17th Century, History, 18th Century, Humans, Male, Paleopathology, Radiography, Skull (diagnostic imaging).
- MESH :
- diagnostic imaging : Facial Asymmetry, Goldenhar Syndrome, Skull.
- history : Goldenhar Syndrome.
- pathology : Facial Nerve.
- Adolescent, Chorda Tympani Nerve, History, 15th Century, History, 16th Century, History, 17th Century, History, 18th Century, Humans, Male, Paleopathology, Radiography.
Abstract
We investigated the skull of a juvenile living in Southern Germany between 1400 and 1800 A.D. A remarkable hemifacial microsomia led to further detailed computed tomographic examination especially of the petrous bone revealing a total bony atresia of the external auditory canal as well as distinct anomalies of the middle ear on the same side. The combination of these findings strongly suggests the diagnosis of Goldenhar syndrome. This very heterogeneous syndrome affects primarily aural, ocular, oral and mandibular development, whereby the constellation of anomalies indicate their origin at approximately 30-45 days of gestation, caused by genetic or intrauterine factors. Despite the lack of clinical information and the absence of soft tissue it was possible to perform a differential diagnosis in this palaeopathological case. Thereby, the use of modern modalities of image reconstructions in this computed tomographic clearly enhanced the supposed diagnosis.
DOI: 10.1016/j.jchb.2008.02.002
PubMed: 18996519
Affiliations:
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Esch</name></author><author><name sortKey="Nerlich, A G" sort="Nerlich, A G" uniqKey="Nerlich A" first="A G" last="Nerlich">A G Nerlich</name></author><author><name sortKey="Zink, A R" sort="Zink, A R" uniqKey="Zink A" first="A R" last="Zink">A R Zink</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="RBID">pubmed:18996519</idno><idno type="pmid">18996519</idno><idno type="doi">10.1016/j.jchb.2008.02.002</idno><idno type="wicri:Area/PubMed/Corpus">000494</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000494</idno><idno type="wicri:Area/PubMed/Curation">000494</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000494</idno><idno type="wicri:Area/PubMed/Checkpoint">000494</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000494</idno><idno type="wicri:Area/Ncbi/Merge">000902</idno><idno type="wicri:Area/Ncbi/Curation">000902</idno><idno type="wicri:Area/Ncbi/Checkpoint">000902</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Radiological evidence of Goldenhar syndrome in a paleopathological case from a South German ossuary.</title><author><name sortKey="Panzer, S" sort="Panzer, S" uniqKey="Panzer S" first="S" last="Panzer">S. Panzer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Radiology, Murnau Trauma Center, D-82418 Murnau am Staffelsee, Germany. stephanie.panzer@bgu-murnau.de</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Radiology, Murnau Trauma Center, D-82418 Murnau am Staffelsee</wicri:regionArea><wicri:noRegion>82418 Murnau am Staffelsee</wicri:noRegion><wicri:noRegion>82418 Murnau am Staffelsee</wicri:noRegion><wicri:noRegion>D-82418 Murnau am Staffelsee</wicri:noRegion></affiliation></author><author><name sortKey="Cohen, M" sort="Cohen, M" uniqKey="Cohen M" first="M" last="Cohen">M. Cohen</name></author><author><name sortKey="Esch, U" sort="Esch, U" uniqKey="Esch U" first="U" last="Esch">U. Esch</name></author><author><name sortKey="Nerlich, A G" sort="Nerlich, A G" uniqKey="Nerlich A" first="A G" last="Nerlich">A G Nerlich</name></author><author><name sortKey="Zink, A R" sort="Zink, A R" uniqKey="Zink A" first="A R" last="Zink">A R Zink</name></author></analytic><series><title level="j">Homo : internationale Zeitschrift fur die vergleichende Forschung am Menschen</title><idno type="ISSN">0018-442X</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Chorda Tympani Nerve</term><term>Facial Asymmetry (diagnostic imaging)</term><term>Facial Nerve (pathology)</term><term>Goldenhar Syndrome (diagnostic imaging)</term><term>Goldenhar Syndrome (history)</term><term>History, 15th Century</term><term>History, 16th Century</term><term>History, 17th Century</term><term>History, 18th Century</term><term>Humans</term><term>Male</term><term>Paleopathology</term><term>Radiography</term><term>Skull (diagnostic imaging)</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Facial Asymmetry</term><term>Goldenhar Syndrome</term><term>Skull</term></keywords><keywords scheme="MESH" qualifier="history" xml:lang="en"><term>Goldenhar Syndrome</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Facial Nerve</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Chorda Tympani Nerve</term><term>History, 15th Century</term><term>History, 16th Century</term><term>History, 17th Century</term><term>History, 18th Century</term><term>Humans</term><term>Male</term><term>Paleopathology</term><term>Radiography</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We investigated the skull of a juvenile living in Southern Germany between 1400 and 1800 A.D. A remarkable hemifacial microsomia led to further detailed computed tomographic examination especially of the petrous bone revealing a total bony atresia of the external auditory canal as well as distinct anomalies of the middle ear on the same side. The combination of these findings strongly suggests the diagnosis of Goldenhar syndrome. This very heterogeneous syndrome affects primarily aural, ocular, oral and mandibular development, whereby the constellation of anomalies indicate their origin at approximately 30-45 days of gestation, caused by genetic or intrauterine factors. Despite the lack of clinical information and the absence of soft tissue it was possible to perform a differential diagnosis in this palaeopathological case. Thereby, the use of modern modalities of image reconstructions in this computed tomographic clearly enhanced the supposed diagnosis.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country></list><tree><noCountry><name sortKey="Cohen, M" sort="Cohen, M" uniqKey="Cohen M" first="M" last="Cohen">M. Cohen</name><name sortKey="Esch, U" sort="Esch, U" uniqKey="Esch U" first="U" last="Esch">U. Esch</name><name sortKey="Nerlich, A G" sort="Nerlich, A G" uniqKey="Nerlich A" first="A G" last="Nerlich">A G Nerlich</name><name sortKey="Zink, A R" sort="Zink, A R" uniqKey="Zink A" first="A R" last="Zink">A R Zink</name></noCountry><country name="Allemagne"><noRegion><name sortKey="Panzer, S" sort="Panzer, S" uniqKey="Panzer S" first="S" last="Panzer">S. Panzer</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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