Abstract
Achondrogenesis is a heterogeneous group of lethal chondrodysplasias. Achondrogenesis type I (Fraccaro-Houston-Harris type) and type II (Langer-Saldino type) were distinguished on the basis of radiological and histological criteria. Achondrogenesis type I was further subdivided, on the basis of convincing histological criteria, into type IA, which has apparently normal cartilage matrix but inclusions in chondrocytes, and type IB, which has an abnormal cartilage matrix. Classification of type IB as a separate group has been confirmed recently by the discovery of its association with mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene, making it allelic with diastrophic dysplasia.
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(2006). Achondrogenesis. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. https://doi.org/10.1007/978-1-60327-161-5_2
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DOI: https://doi.org/10.1007/978-1-60327-161-5_2
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