Abstract
Marco Fraccaro first described achondrogenesis in 1952 (Fraccardo 1952). He used the term to describe a stillborn female with severe micromelia and marked histological cartilage changes. The term was later used to characterize the most severe forms of chondrodysplasia in humans, which were invariably lethal before or shortly after birth. By the 1970s, researchers concluded that achondrogenesis was a heterogeneous group of chondrodysplasias lethal to neonates; achondrogeneses type I (Fraccaro-Houston-Harris type) and type II (Langer-Saldino type) were distinguished on the basis of radiological and histological criteria.
Keywords
- Achondrogenesis Type
- Severe Micromelia
- Diastrophic Dysplasia Sulfate Transporter (DTDST)
- DTDST Gene
- Recessive Multiple Epiphyseal Dysplasia
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Chen, H. (2017). Achondrogenesis. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_2
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DOI: https://doi.org/10.1007/978-1-4939-2401-1_2
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