The lethal multiple pterygium syndromes: Is prenatal detection possible?

In a recent volume of the American Journal of Medical Genetics, two papers (Hall, 1985; Chen et al, 1984) addressed the issue of the lethal multiple pterygium syndrome. Both authors comment on the heterogeneity of this syndrome and that "the extent of intrafamilial and interfamilial variability is not yet clear" (Hall, 1984). The authors present an experience with the failure to diagnose in utero a recurrent case of a lethal multiple pterygium syndrome to illustrate the difficulties that may be encountered and to emphasize the extent of intrafamilial variability.