A Case of X-Linked Recessive Spondyloepiphyseal Dysplasia Tarda

Abstract

X-Linked recessive spondyloepiphyseal dysplasia tarda (SEDT) is a very rare disorder that mostly affects males and is characterized by short stature, arm span typically exceeding height, and barrel chest deformity. In affected patients, the center of the vertebral epiphysis is involved, the formation of the epiphysis is delayed, and platyspondyly (flattened vertebral bodies) occurs over time. In addition, progressive joint and back pain with degenerative process due to early onset of osteoarthritis and osteoporosis may ensue. Motor and cognitive functions are normal in such patients. The diagnosis of X-linked recessive SEDT is still based on a combination of clinical and radiographic features, and pedigree analysis. Molecular analysis is only needed for the confirmatory diagnosis, especially in suspected cases. This article is a case report focusing on the diagnostic findings of X-linked recessive SEDT.