Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computerized tomography.

We present a case of hypochondrogenesis, a rare autosomal dominant skeletal dysplasia that often results in infant death shortly after birth. Hypochondrogenesis can present similarly to other skeletal dysplasia diseases, notably achondrogenesis type II. The diagnosis of hypochondrogenesis was given during the prenatal stage after fetal imaging was performed using ultrasound, magnetic resonance imaging (MRI), and low-dose computerized tomography (CT). To the best of our knowledge, this is the first known case that reported the use of low-dose CT to assist in the prenatal diagnosis of hypochondrogenesis. • Hypochondrogenesis is a lethal skeletal dysplasia with less than 100 known cases. • Fetal imaging can differentiate hypochondrogenesis from achondrogenesis type II. • Low-dose CT revealed distinguishing defects not seen on ultrasound or MRI. [ABSTRACT FROM AUTHOR]