Congenital Abnormality
achondrogenesis
Definitions related to achondrogenesis:
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A rare group of disorders characterized by defective development of bones and cartilage.NCI ThesaurusU.S. National Cancer Institute, 2021
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A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.OrphaNetINSERM, 2021
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Marco Fraccaro first described achondrogenesis in 1952. He used the term to describe a stillborn female with severe micromelia and marked histological cartilage changes.WebMD, 2019
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Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, extremely short arms and legs, other skeletal abnormalities, and underdeveloped lungs. There are at least three forms of achondrogenesis, type 1A, type 1B and...National Center for Advancing Translational Sciences
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