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.
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.
Elçioglu
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Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, UK.
Hall
C M
CM
D002114:Calcinosis; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005313:Fetal Death; D006801:Humans; D007231:Infant, Newborn; D009999:Ossification, Heterotopic; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D011859:Radiography