Prenatal diagnosis of campomelic dysplasia by ultrasonography |
| |
| Authors: | R Winter W Rosenkranz H Hofmann H Zierler H Becker M Borkenstein |
| |
| Institution: | 1. Institut für Medizinische Biologie und Humangenetik. Universität, Graz, Österreich (Vorstand: Univ. Prof. Dr W. Rosenkranz);2. Geburtshilflich-gynäkologiche Universitätsklinik, Graz, Österreich (Vorstand: Univ. Prof. Dr E. Burghardt);3. Pathologisch-anatomisches Institut der Universität, Graz, Österreich (Vorstand: Univ. Prof. Dr H. Denk);4. Universitäts-Kinderklinik, A-8036 Graz. Österreich, Graz, Österreich (Suppl. Vorstand: Univ. Prof. Dr H. Wendler) |
| |
| Abstract: | Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th week of gestation. This was confirmed in the 18th week. The pregnancy was terminated and the fetus showed the typical radiological, anatomical and histological findings. |
| |
| Keywords: | Prenatal diagnosis Ultrasonography Campomelic dwarfism |
|
|
