[Severe microphthalmus with Patau's syndrome (author's transl)].
The authors describe a new-born child with Patau's syndrome in which D-trisomy was zytogenetically proved. The interest in this case is justified by the fact that an anophthalmos was suspected on clinical examination, but the histological examination showed a severe grade of bulb hypoplasia. The authors stress the significance of chromosome examination in cases of multiple congenital deformities associated with eye changes.
D002901:Chromosomes, Human, 13-15; D005123:Eye / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008850:Microphthalmos / Q000473:pathology; D013577:Syndrome; D014314:Trisomy
Hochgradiger Mikrophthalmus beim Patau-Syndrom.