Abstract:

Achondrogenesis is a rare type of osteocondroplasia, characterized by short stubby limbs, ossification defect at vertebral corpuses, barrel chest, short stature, protuberant abdomen, enlarged head, and autosomal recessive inheritance pattern. Many fetuses with skeletal dysplasia may be diagnosed by ultrasonographic findings at 16-24 weeks. A case of achondrogenesis type II diagnosed according to the postnatal clinical and radiological findings has been reported in this paper. Prenatal diagnosis was not achieved because of non-compliance of the mother to pregnancy follow-up, despite her history of two abortions. Prenatal diagnosis of achondrogenesis associated with skeletal dysplasia is very important because of its autosomal dominant and recessive inheritance. As a consequence, pregnancy counseling for further pregnancies is possible

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