We present herein our first experience with a case of thanatophoric dysplasia (type I) that was diagnosed during the second trimester using three- and four-dimensional HDlive ultrasonography. The HDlive rendering mode clearly showed the anatomical features of thanatophoric dysplasia: external malformations and skeletal abnormalities, including extremely short limbs, flattened vertebral bodies, and short horizontal ribs, among others. HDlive can provide valuable, highly realistic images for the differential diagnosis of skeletal dysplasia. It may also play an important complementary role when conventional two- and three-dimensional ultrasonography does not provide sufficient definition.
Keywords: HDlive ultrasonography; Short limbs; Skeletal dysplasia; Thanatophoric dysplasia.