Abstract
Background
Achondrogenesis type II is a rare autosomal dominant skeletal dysplasia with a frequency of ~0.2 per 100,000 births. It is one of the lethal short-limbed dwarfisms associated with structural mutations in type II collagen and is also known as Langer-Saldino achondrogenesis. It is characterized by severe micromelia (shortening of entire limb), narrow chest, and prominent abdomen. It shares the striking feature of partial or complete vertebral body demineralization with achondrogenesis type I.
Case presentation
We present a case with antenatal diagnosis of this rare entity which was confirmed by post-termination radiographs of abortus.
Conclusion
The imaging plays a cardinal role in the diagnosis of this condition. This case represents only the 4th case of this rare entity from India.
Achondrogenesis Type II in a Live Term Newborn Infant: A Case Report