Prenatal diagnosis of achondrogenesis type II: A case report.
- Author:
June Seek CHOI
1
;
Min Hwan MOON
Author Information
1. Department of Obstetrics and Gynecology, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Korea. mykimdr@yahoo.co.kr
- Publication Type:Case Report
- Keywords:
Achondrogenesis type II;
Micromelia;
Ultrasonography
- MeSH:
Abdomen;
Female;
Humans;
Nuchal Translucency Measurement;
Pregnancy;
Pregnancy Trimester, First;
Pregnancy Trimester, Second;
Prenatal Diagnosis;
Rib Fractures;
Ribs;
Skull;
Spine;
Thorax
- From:Korean Journal of Perinatology
2009;20(1):60-64
- CountryRepublic of Korea
- Language:English
-
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.
