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DeCS
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Descriptor English:
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Mandibulofacial Dysostosis
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Descriptor Spanish:
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Disostosis Mandibulofacial
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Descriptor Portuguese:
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Disostose Mandibulofacial
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Synonyms English:
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Treacher Collins Syndrome
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Tree Number:
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C05.116.099.370.231.576
C05.660.207.231.576
C16.131.621.207.231.576
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Definition English:
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A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) |
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Indexing Annotation English:
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a form of craniofacial dysostosis; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
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Allowable Qualifiers English:
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Record Number:
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8514
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Unique Identifier:
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D008342
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Occurrence in VHL:
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Similar:
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DeCS SciELO LILACS LIS
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