Lethal chondrodysplasia punctata.
The radiological findings in five infants, with chondrodysplasia punctata, who died during the neonatal period are presented to illustrate the role of radiology in diagnosis and prognosis in this syndrome. Rhizomelic shortening of the limbs almost inevitably indicates an early demise. In the non-rhizomelic group, features such as excessive stippling and tracheal calcification are unreliable prognostic factors of early morbidity and mortality.
D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000000981:diagnostic imaging*; D008297:Male; D011379:Prognosis; D011859:Radiography