A new lethal chondrodysplasia with platyspondyly, long bone angulation and mixed bone density.

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