Unusual Presentations of Trisomy 21

Abstract

Trisomy 21 is the most common aneuploidy in liveborn infants. Most of the soft markers for trisomy 21 are non-specific and transient. 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 investigation, we could diagnose trisomy 21 even with such unusual presentations.