关键词: CT Fetal imaging Hypochondrogenesis MRI Skeletal dysplasia Ultrasound

Mesh : Female Humans Infant Magnetic Resonance Imaging Osteochondrodysplasias / diagnostic imaging Pregnancy Prenatal Diagnosis Tomography, X-Ray Computed Ultrasonography Ultrasonography, Prenatal

来  源:   DOI:10.1016/j.clinimag.2020.10.013   PDF(Sci-hub)

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.
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