Prenatal diagnosis of achondrogenesis type I: a case report

M Zeki Taner, Mertihan Kurdoglu, Cagatay Taskiran, M Anil Onan, Guven Gunaydin, Ozdemir Himmetoglu
Cases Journal 2008, 1 (1): 406

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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