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Prenatal diagnosis of achondrogenesis type I: a case report
M Zeki Taner1, Mertihan Kurdoglu, Cagatay Taskiran
1Department of Obstetrics and Gynecology, Yuzuncu Yil University School of Medicine, Van, Turkey (Formerly, Department of Obstetrics and Gynecology, Gazi University School of Medicine, Ankara, Turkey). mkurdoglu@doctor.com.
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.
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