Dominant mesomelic dwarfism of the hypoplastic tibia, radius type
- 23 April 2008
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 7 (4) , 280-286
- https://doi.org/10.1111/j.1399-0004.1975.tb00330.x
Abstract
A new type of mesomelic dwarfism in two male siblings and their father is presented. The responsible mutant gene manifests itself phenotypically as a severe dysostosis of the tibia with shortening, bowing and pseudarthrosis and as a mild dysostosis of the radius. The fibulae and ulnae are secondarily affected, but the rest of the skeleton is normal. The disorder has an autosomal dominant mode of inheritance. It can be differentiated rather easily from the already known forms of mesomelic dwarfism.Keywords
This publication has 2 references indexed in Scilit:
- Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, Mandible TypeRadiology, 1967
- Ulno-fibulare Dysplasie. Eine autosomal-dominant vererbte Mikromesomelie ähnlich dem NievergeltsyndromRöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren, 1967