Hydrolethalus syndrome in consecutive African siblings

Abstract

Hydrolethalus syndrome may comprise mainly hydrocephalus, polydactyly, micrognathia, congenital cardiac and respiratory anomalies and uniform lethality. It was recently described in Finland, with a suggestion that it might be one of the "Finnish" diseases [4]. We report two cases of this syndrome in consecutive siblings of a Nigerian couple. In addition, we describe associated healing fractures of the long bones, a feature not mentioned in the original report, apparently because those cases were not subjected to post-partum radiography.