A NEW LETHAL CHONDRODYSPLASIA WITH PLATYSPONDYLY, LONG-BONE ANGULATION AND MIXED BONE-DENSITY

A fetus diagnosed by sonography at 20 weeks' gestation had multiple sk eletal abnormalities. The main features were absent ossification of th e skull and cervical and upper thoracic vertebral bodies; short, angul ated femora, tibiae, radii and ulnae but normal humeri; platyspondyly; trident-shaped acetabular roofs; sclerotic bands on the iliac wings a nd scapulae; clavicular hooks; and overall, mixed bone density. We sug gest that this is a new chondrodysplasia which, since the parents are first cousins, could follow autosomal recessive inheritance.