title: Brachytelephalangic chondrodysplasia punctata.
abstract: A case is reported here of a boy with brachytelephalangic chondrodysplasia punctata. This is the first case of this disorder reported in the Australian literature.
authors.affiliation: Centrum Zdrowia Matki Polki, Lodz, Poland.
authors.forename: T
authors.initials: T
authors.lastname: Bieganski
authors.forename: K
authors.initials: K
authors.lastname: Kozlowski
mesh_terms: D001315:Australia / Q000453:epidemiology; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D014960:X Chromosome