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

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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,… Click to show full abstract

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.

Keywords: hypochondrogenesis; low dose; computerized tomography; dose computerized; mri low

Journal Title: Clinical imaging
Year Published: 2020

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