1/2. Familial symphalangism syndrome transmitted through five generations.We report on proximal symphalangism of the four last fingers, transmitted through five generations of an African family. Intrafamilial variations of the disorder are due to the heterogeneity of associated anomalies. This familial trait resembles multiple synostosis disease, however, it is not restricted to synostoses and appears to be more generalised. To our knowledge this is the first report of a familial trait associating proximal and distal symphalangism. The distribution of elementary anomalies in this family suggests a link in their pathogeny and raises the question of embryological equivalence for some of them. Symphalangism seems to be a symptom of a more generalised disorder, the comprehension of which requires a better coordination of clinical, embryological and genetic data.- - - - - - - - - - ranking = 1keywords = synostosis (Clic here for more details about this article) |
2/2. magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndrome.The Baller-Gerold syndrome is identified by radial aplasia with craniosynostosis. Only 12 cases have been reported previously in the literature; none of the reports describe surgical treatment for the radial aplasia. We report the case of a 10-month-old female infant with this syndrome, including severe bilateral radial clubhands. A radial anlage, which was tethering growth of the ulna, was suspected on physical examination and confirmed with magnetic resonance imaging. Resection of the anlage resulted in dramatic improvement in elbow extension, but additional follow-up will be necessary to determine the complete functional effect of the procedure.- - - - - - - - - - ranking = 1keywords = synostosis (Clic here for more details about this article) |