Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus

Larsen syndrome shows a broad spectrum of clinical manifestation ranging fr om a lethal form of the disorder to a mild clinical expression with absence of major diagnostic features. Here we show that even intrafamilial manifes tation may vary extremely to the point that Larsen syndrome in a father has been diagnosed only by typical sonographic features in an affected fetus.