Korean J Perinatol.  2009 Mar;20(1):60-64.

Prenatal diagnosis of achondrogenesis type II: A case report

• Choi JS
• Moon MH

Abstract

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.

Keyword

Achondrogenesis type II; Micromelia; Ultrasonography

MeSH Terms

Abdomen
Female
Humans
Nuchal Translucency Measurement
Pregnancy
Pregnancy Trimester, First
Pregnancy Trimester, Second
Prenatal Diagnosis
Rib Fractures
Ribs
Skull
Spine
Thorax