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

Achondrogenesis is a lethal form of congenital chondrodystrophy characteriz ed by extreme micromelia. We describe a case of achondrogenesis type II (La nger-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-we ek gestation. A dwarfed fetus with large head, short neck and chest, promin ent abdomen and short limbs was terminated transvaginally. Radiologic and h istopathologic examination revealed features of mild form of achondrogenesi s type II. Although the case had no known risk factor and the phenotypic ab normality was mild, modern development in prenatal screening made the early detection possible.