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.
- Bonafé, L., Mittaz-Crettol, L., & Ballhausen, D., et al. (2013). Achondrogenesis type 1B. GeneReviews. Updated 14 Nov 2013. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1516/
- Chen, H. (2013). Achondrogenesis. eMedicine from WebMD. Updated 26 June 2013. Available at: http://emedicine.medscape.com/article/941176-overview
- Chen, H. (2015). Skeletal dysplasia. eMedicine from WebMD. Updated 2 Mar 2015. Available at: http://emedicine.medscape.com/article/943343-overview
- Fraccardo, M. (1952). Contributo allo studio delle malattie del mesenchima osteopoietico: l Achondrogenesi. Folia Hered Path, 1, 190–208.Google Scholar
- Hastbacka, J., de la Chapelle, A., Mahtani, M. M., Clines, G., Reeve-Daly, M. P., Daly, M., Hamilton, B. A., Kusumi, K., Trivedi, B., Weaver, A., et al. (1994). The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping. Cell, 78, 1073–1087.PubMedCrossRefGoogle Scholar
- Hastbacka, J., Superti-Furga, A., Wilcox, W. R., et al. (1996). Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias. American Journal of Human Genetics, 58, 255–262.PubMedPubMedCentralGoogle Scholar
- Yang, S. S., & Gilbert-Barnes, E. (1997). Skeletal system. In E. Gilbert-Barness (Ed.), Potter’s pathology of the fetus and infant (pp. 1423–1478). St Louis: Mosby.Google Scholar