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.

The purpose of this overview is to increase the awareness of clinicians regarding type II collagen disorders and their management. The following are the goals of this overview. GOAL 1: Describe the clinical characteristics of type II collagen disorders. GOAL 2: Provide an evaluation strategy to identify the genetic cause of a type II collagen disorder in a proband. GOAL 3: Inform genetic counseling of family members of an individual with a type II collagen disorder. GOAL 4: Review management of type II collagen disorders.