Pseudodiastrophic dysplasia type Burgio in a newborn.

ABSTRACT

Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. We report on a new patient with this rare skeletal dysplasia and two previously undescribed major malformations omphalocele and complex heart defect.