Colobomata of the iris, ciliary body and choroid in an infant with oesophago-tracheal fistula and congenital heart defects. An unknown malformation complex.
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.
D000015:Abnormalities, Multiple / Q000473:pathology; D002829:Choroid / Q000002:abnormalities / Q000473:pathology; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D002924:Ciliary Body / Q000002:abnormalities / Q000473:pathology; D003103:Coloboma / Q000473:pathology*; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities / Q000473:pathology; D008297:Male; D008850:Microphthalmos / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000151:congenital; D014138:Tracheoesophageal Fistula / Q000151:congenital