Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
10.3346/jkms.2000.15.5.604
- Author:
Hye Seung LEE
1
;
Jin Woo DOH
;
Chong Jai KIM
;
Je G CHI
Author Information
1. Department of Pathology and Obstetrics, Seoul National University College of Medicine, Korea. HYE@netian.com
- Publication Type:Case Report
- Keywords:
Achondroplasia;
Achondrogenesis Type II;
Lethal Skeletal Dysplasia;
Ultrasonography, Prenatal
- MeSH:
Abortion, Induced;
Achondroplasia/ultrasonography;
Achondroplasia/pathology*;
Bone and Bones/pathology;
Case Report;
Female;
Fetal Diseases/ultrasonography;
Fetal Diseases/pathology*;
Human;
Pregnancy;
Ultrasonography, Prenatal
- From:Journal of Korean Medical Science
2000;15(5):604-608
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
