Literature DB >> 737958

Lethal chondrodysplasia punctata.

N G Heselson, B J Cremin, P Beighton.   

Abstract

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.

Entities:  

Mesh:

Year:  1978        PMID: 737958     DOI: 10.1016/s0009-9260(78)80202-5

Source DB:  PubMed          Journal:  Clin Radiol        ISSN: 0009-9260            Impact factor:   2.350


  2 in total

1.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

2.  Chondrodysplasia punctata. Report of two cases.

Authors:  P E Andersen; P Justesen
Journal:  Skeletal Radiol       Date:  1987       Impact factor: 2.199

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.