Case Report

Achondrogenesis type 1: a rare skeletal dysplasia

  • Gülengül Köken
  • Emine Cosar
  • Figen Kir Sahin
  • Dagistan Tolga Ariöz
  • Mesut Köse
  • Mehmet Yilmazer

Turk J Obstet Gynecol 2007;4(3):205-207

Achondrogenesis, is a form of skeletal displazia with the characteristic features of severe shortening of the limbs, short trunk, large head and severe pulmonary hypoplasia. Two types are distunguished based on clinical, radiologic, and histopathologic features. Achondrogenesis type I is an autosomal recessive, lethal skeletal dysplasia. A 30-year-old woman, was referred to our obstetric clinic at 29-week gestation with fetal anomalies on prenatal ultrasound examination. Prenatal sonograms revealed severe short-limbs, small thoracic cavity, mild ventricular dilatation, macrocrania, the poor mineralization of the skull, polyhydramnios. At 30 week of gestation she made delivery and fetus was dead during labor. Postmortem radiographs and clinical findings were shown the diagnosis of Achondrogenesis Type 1. Achondrogenesis is lethal skeletal dysplasia and diagnosis must be done at early gestational weeks for termination of pregnancy.

Keywords: Achondrogenesis, skeletal dysplasia