A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder. |
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| Authors: | N El?ioglu C M Hall |
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| Affiliation: | Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, UK. |
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| 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. |
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