Abstract
An unusual osteochondrodysplasia presenting with lethal neonatal short limbed dwarfism, defective ossification, and punctate calcification within cartilage is presented. The features resemble four cases previously described with Astley-Kendall dysplasia.
MeSH terms
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Calcinosis
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Chondrodysplasia Punctata / diagnostic imaging
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Chondrodysplasia Punctata / embryology
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Chondrodysplasia Punctata / genetics*
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Dwarfism / genetics
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Female
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Fetal Death
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Humans
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Infant, Newborn
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Ossification, Heterotopic
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Osteogenesis Imperfecta / diagnostic imaging
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Osteogenesis Imperfecta / embryology
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Osteogenesis Imperfecta / genetics*
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Radiography