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Achondrogenesis

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Atlas of Genetic Diagnosis and Counseling

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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.

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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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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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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