J Korean Med Sci.  2000 Oct;15(5):604-608. 10.3346/jkms.2000.15.5.604.

Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report

• Lee HS
• Doh JW
• Kim CJ
• Chi JG

• KMID: 965888
• DOI: http://doi.org/10.3346/jkms.2000.15.5.604

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.

Keyword

Achondroplasia; Achondrogenesis Type II; Lethal Skeletal Dysplasia; Ultrasonography, Prenatal

MeSH Terms

Abortion, Induced
Achondroplasia/ultrasonography
Achondroplasia/pathology*
Bone and Bones/pathology
Case Report
Female
Fetal Diseases/ultrasonography
Fetal Diseases/pathology*
Human
Pregnancy
Ultrasonography, Prenatal