| dbo:abstract |
Das Beare-Stevenson-Cutis-gyrata-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Cutis verticis gyrata, Acanthosis nigricans und Kraniosynostose. Die Namensbezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1969 durch den irischen Pädiater J.M. Beare und Mitarbeiter sowie aus dem Jahre 1978 durch den US-amerikanischen Pädiater Roger E. Stevenson und Mitarbeiter. (de) Beare–Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis (premature fusion of certain bones of the skull, sometimes resulting in a characteristic 'cloverleaf skull'; further growth of the skull is prevented, and therefore the shape of the head and face is abnormal) and a specific skin abnormality, called cutis gyrata, characterized by a furrowed and wrinkled appearance (particularly in the face and on the palms and soles of the feet); thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the groin. (en) |
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Beare–Stevenson cutis gyrata syndrome (en) |
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| dbp:synonyms |
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome (en) |
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| gold:hypernym |
dbr:Disorder |
| rdf:type |
owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment |
Das Beare-Stevenson-Cutis-gyrata-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Cutis verticis gyrata, Acanthosis nigricans und Kraniosynostose. Die Namensbezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1969 durch den irischen Pädiater J.M. Beare und Mitarbeiter sowie aus dem Jahre 1978 durch den US-amerikanischen Pädiater Roger E. Stevenson und Mitarbeiter. (de) Beare–Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis (premature fusion of certain bones of the skull, sometimes resulting in a characteristic 'cloverleaf skull'; further growth of the skull is prevented, and therefore the shape of the head and face is abnormal) and a specific skin abnormality, called cutis gyrata, characterized by a furrowed and wrinkled appearance (particularly in the face and on the palms and soles of the feet); thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the groin. (en) |
| rdfs:label |
Beare–Stevenson cutis gyrata syndrome (en) Beare-Stevenson-Cutis-gyrata-Syndrom (de) |
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freebase:Beare–Stevenson cutis gyrata syndrome wikidata:Beare–Stevenson cutis gyrata syndrome http://bs.dbpedia.org/resource/Beare-Stevensonov_sindrom_kutis_girata dbpedia-de:Beare–Stevenson cutis gyrata syndrome https://global.dbpedia.org/id/4WxzF |
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Beare–Stevenson cutis gyrata syndrome (en) |
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