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DeCS
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Descriptor Inglés:
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Antley-Bixler Syndrome Phenotype
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Descriptor Español:
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Fenotipo del Síndrome de Antley-Bixler
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Descriptor Portugués:
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Fenótipo de Síndrome de Antley-Bixler
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Sinónimos Inglés:
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Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome, Autosomal Dominant
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Categoría:
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C05.116.099.370.894.115
C05.660.906.181
C16.131.621.906.181
C16.320.565.925.324
C18.452.648.925.324
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Definición Inglés:
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An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2). |
Nota Histórica Inglés:
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2009
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Calificadores Permitidos Inglés:
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Número del Registro:
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53063
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Identificador Único:
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D054882
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Ocurrencia en la BVS:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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