The role of ultrasound in the accurate diagnosis of a case of thanatophoric dysplasia

Thanatophoric dysplasia (TD) has been reported as being one of the most common of the lethal skeletal dysplasias with its sonographic appearances being well-documented.This report presents a case of TD, which was correctly diagnosed at a routine 20-week gestation anomaly ultrasound investigation. Full consent from the affected mother has been granted. Recent advances in ultrasound technologies have been shown to have had an impact on the detection of skeletal dysplasia. These advances, and the limitations of making an accurate diagnosis from ultrasound alone, are discussed within this report.