期刊
JOURNAL OF KOREAN MEDICAL SCIENCE
卷 15, 期 5, 页码 604-608出版社
KOREAN ACAD MEDICAL SCIENCES
DOI: 10.3346/jkms.2000.15.5.604
关键词
achondroplasia; achondrogenesis type II; lethal skeletal dysplasia; ultrasonography, prenatal
Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examination revealed features of mild form of achondrogenesis type II. Although the case had no known risk factor and the phenotypic abnormality was mild, modern development in prenatal screening made the early detection possible.
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