title: Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
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.
authors.affiliation: Department of Pathology and Obstetrics, Seoul National University College of Medicine, Korea. HYE@netian.com
authors.forename: H S
authors.initials: HS
authors.lastname: Lee
authors.forename: J W
authors.initials: JW
authors.lastname: Doh
authors.forename: C J
authors.initials: CJ
authors.lastname: Kim
authors.forename: J G
authors.initials: JG
authors.lastname: Chi
mesh_terms: D000028:Abortion, Induced; D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000473:pathology*; D001842:Bone and Bones / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D011247:Pregnancy; D016216:Ultrasonography, Prenatal