Antenatal diagnosis of achondrogenesis type II

Abstract

Achondrogenesis is a lethal congenital chondrodystrophy characterized by extreme micromelia, small thorax and polyhydramnios. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis). Prenatal ultrasonography at 22-weeks gestation revealed a fetus with large head, short neck and chest, prominent abdomen and short limbs. Pregnancy was terminated. Radiologic examination of neonate revealed features of achondrogenesis type II. Routine ultrasound screening made early detection and timely management possible.