Abstract
Report of a case of the "CHARGE association" including bilateral papillary coloboma, with an aspect of "morning glory syndrome" on one side. Clinical features of the "CHARGE association" are described; pathogenesis is likely involving cells of neural crests. Discussion, in this field, of the ocular and systemic abnormalities associated with "morning glory syndrome".
Publication types
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Case Reports
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English Abstract
MeSH terms
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Abnormalities, Multiple / embryology
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / pathology*
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Adult
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Choanal Atresia / embryology
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Choanal Atresia / genetics
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Choanal Atresia / pathology*
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Coloboma / embryology
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Coloboma / genetics
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Coloboma / pathology*
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Heart Defects, Congenital / embryology
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Heart Defects, Congenital / genetics
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Heart Defects, Congenital / pathology*
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Humans
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Male
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Optic Disk / abnormalities*