Abstract
A malformation pattern, not previously reported consisting of microphthalmia, uveal coloboma, oesophago-tracheal fistula and congenital heart defects is presented. The phaenotypical similarity and difference from previously reported cases are discussed.
MeSH terms
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Abnormalities, Multiple* / pathology
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Choroid / abnormalities
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Choroid / pathology
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Chromosome Inversion
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Chromosomes, Human, 6-12 and X
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Ciliary Body / abnormalities
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Ciliary Body / pathology
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Coloboma / pathology*
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Heart Defects, Congenital / pathology*
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Humans
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Infant, Newborn
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Iris / abnormalities
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Iris / pathology
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Male
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Microphthalmos / pathology
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Neurofibromatosis 1 / congenital
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Tracheoesophageal Fistula / congenital