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KMID : 0361720090200010060
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Korean Journal of perinatology
2009 Volume.20 No. 1 p.60 ~ p.64
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Prenatal diagnosis of achondrogenesis type II: A case report
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Choi No-Mi
Chung Jin-Hoon
Ryu Hyun-Mee
Kim Moon-Young
Choi June-Seek
Yang Jae-Hyug
Moon Min-Hwan
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Abstract
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We present a case of achondrogenesis type II demonstrating increased nuchal translucency on the first trimester ultrasound, which was confirmed in the second trimester ultrasound. Achondrogenesis type II is characterized by micromelia, varied ossification of spine, an enlarged calvarium with normal ossification, variable shortening of the ribs, and lack of rib fractures. In this case, ultrasonographic examination in the second trimester revealed a normally ossified cranium with relatively short long bones and a mildly protuberant abdomen due to small thorax and scanty ossified vertebral bodies. All these findings were compatible with the diagnosis of achondrogenesis type II. We further confirmed the diagnosis of achondrogenesis type II with postmortem radiographic examination.
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KEYWORD
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Achondrogenesis type II, Micromelia, Ultrasonography
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