Unusual Presentations of Trisomy 21

We present 2 cases which had abnormalities which are very rarely associated with Down ’s syndrome. In the first case, the patient had bilateral congenital cataract along with an absent nasal bone. In the second case, the patient had severe asymmetric fetal growth restriction at 20 weeks with other multi-system abnormalities. With detailed ultrasound scanning and thorough investi gation, we could diagnose trisomy 21 even with such unusual presentations.
Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research