COCKAYNE’S SYNDROME: ROENTGEN FINDINGS

Cockayne’s syndrome is a specific roentgenologic entity as well as a specific clinical entity, the radiologist being able to first suggest the diagnosis.The earliest roentgen findings, usually becoming noticeable during the 2nd and 3rd years of life, are microcephaly, posterior tapering of thoracic vertebral bodies, and steepening of the iliac angle in a small pelvis. Later, these children often show intracranial calcifications, unusually slender clavicles and ribs, osteoporosis, relatively long extremities with large tarsal and carpal bones, and sclerosis of developing ossification centers in the extremities.Diagnosis is important to initiate early genetic counseling with parents concerning future pregnancies. As radiologists are able to participate in the diagnosis, this disorder may be found to be more frequent than previously thought; hence, research will be stimulated to find the cause and treatment.The roentgenographic and clinical similarities between Cockayne’s syndrome and the inborn errors of me...