[Non-rhizomelic chondrodysplasia punctata. Presentation of a clinical case].
Is described one case of non-rhizomelic chondro-dysplasia punctata; after an introduction in which the disease is considered in its nosography and ways of genetic transmission and the symptoms are described, the case is examined stressing the gravity of epiphyseal calcifications and the unusual localization of some of them together with megabladder and megacolon. The AA. conclude pointing out the main role of the x-ray examination in the diagnosis of the syndrome.
Livolsi
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Divisione Pediatrica-Ospedale Civile "S. Andrea"-La Spezia, Italia.
D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging / Q000235:genetics*; D006621:Hip Joint; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011859:Radiography; D012785:Shoulder Joint
Condrodisplasia "punctata" non rizomelica. Presentazione di un caso clinico.