Thoracolumbar spinal abnormalities in Stickler syndrome

Study Design: Retrospective review of clinical and radiographic records of patients with Stickler syndrome. Objectives: To describe thoracolumbar spinal abnormalities and their correl ation with age and back pain among patients with Stickler syndrome. Summary of Background Data: Stickler syndrome (hereditary arthro-ophthalmop athy) is an autosomal dominant connective tissue disorder characterized by skeletal, ocular, oral-facial, cardiac, and auditory manifestations. Preval ence is approximately 1 in 10,000 (similar to that of Marfan syndrome). No one has investigated spinal abnormalities in a large series of patients. Methods: A single-center evaluation of 53 patients from 24 families with St ickler syndrome (age range, 1-70 years) in a multidisciplinary genetics cli nic. Thoracolumbar radiographs were analyzed for spinal abnormalities and c orrelation with age and back pain. Results: Thirty-four percent of patients had scoliosis, 74% endplate abnorm alities, 64% Schmorl's nodes, 43% platyspondylia, and 43% Scheuermann-like kyphosis. Sixty-seven percent of patients and 85% of adults reported chroni c back pain. Endplate abnormalities and Schmorl's nodes were associated wit h adult age; endplate abnormalities, Schmorl's nodes, and adult age were as sociated with back pain. Only one adult patient was free of spinal abnormal ities. Conclusions: Spinal abnormalities are nearly uniformly observed in Stickler syndrome, progress with age, and are associated with back pain. Although c ommon, scoliosis is generally self-limited (only one patient needed surgica l treatment). Correct diagnosis of this syndrome facilitates early identifi cation and management of other potentially severe systemic manifestations a nd genetic counseling for affected families. Moreover, recognition of Stick ler syndrome allows accurate prognosis for skeletal abnormalities and antic ipation of potential surgical complications.