title: 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.
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.
authors.affiliation: Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, UK.
authors.forename: N
authors.initials: N
authors.lastname: Elçioglu
authors.forename: C M
authors.initials: CM
authors.lastname: Hall
mesh_terms: 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