pseudodiastrophic dysplasia
Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.
MONDO:0019700
obsolete primary bone dysplasia with multiple joint dislocations (obsolete MONDO:0019700)
excluded_subClassOf
MONDO:0018230
skeletal dysplasia
is_a
MONDO:0019755
developmental defect during embryogenesis
is_a
Pseudodiastrophic dwarfism
related
pseudodiastrophic dysplasia
exact