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KMID : 0191120000150050604
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Journal of Korean Medical Science
2000 Volume.15 No. 5 p.604 ~ p.608
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Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report
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Lee HS
Doh JW/Kim CJ/Chi JG
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Abstract
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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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