Hydrolethalus syndrome in consecutive African siblings.
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.
D000328:Adult; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000235:genetics*; D007231:Infant, Newborn; D008844:Micrognathism / Q000000981:diagnostic imaging / Q000235:genetics*; D009549:Nigeria; D006831:Polyhydramnios / Q000235:genetics*; D011247:Pregnancy; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging