Survival and dominant transmission of "lethal" platyspondylic dwarfism of the "West coast" types

Torrance, San Diego, and Luton types ("West coast" types) of neonatal platy spondylic short-limbed dwarfism are suspected to be caused by dominant muta tions that are obligatorily lethal. We report on an affected mother, who pa ssed the disease to her daughter, confirming dominant disease transmission. Survival of the mother indicates a wider phenotypic spectrum.