Prenatal diagnosis of achondrogenesis type I: a case report

Abstract

Abstract Introduction Achondrogenesis is a lethal osteochondrodysplasia characterized by hypoplasia of the bones and is associated with various anomalies varying in severity. Based on clinical, radiologic, and histopathologic features, two types are distinguished. Case presentation The prenatal ultrasound examination of a 32-year-old Turkish woman who was referred to our clinic at 33 weeks and 6 days of gestation revealed fetal micromelia together with several other anomalies. The female baby died shortly after birth and was diagnosed with achondrogenesis type I based on the clinical and radiographic findings. Conclusion Ultrasonography is important in prenatal diagnosis and for distinguishing lethal skeletal dysplasias in order to counsel the parents about future recurrent risks. As it is a uniformly lethal disease, a definitive prenatal diagnosis of achondrogenesis may be an indication for pregnancy termination.