Achondrogenesis: A Lethal Chondrodystrophy.
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Date
2014-07
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Abstract
Achondrogenesis is a type of skeletal dysplasia. Skeletal dysplasias are the heterogeneous class of bone growth disorders resulting in abnormal shape and size of the skeleton. Here, we present a rare case of achondrogenesis which was delivered by induced abortion at 6½ months of gestation. The physical, radiological, and ultrasonographic examinations done raised the possibility of this very rare anomaly. Achondrogensis is characterized by extreme micromelia and marked discrepancy between the relatively large head and the decreased trunk length. This rare condition has got genetic mutations associated with it. Achondrogenesis resembles other chondrodystrophies, therefore, its diagnosis needs to be made promptly and accurately.
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Keywords
Achondrogenesis, Investigations, Skeletal dysplasias, Type 1 and Type 2 achondrogenesis
Citation
Yadav Abhijeet, Yadav Mukul. Achondrogenesis: A Lethal Chondrodystrophy. IJSS Case Reports & Reviews. 2014 Jul; 1(2): 1-3.