THORACOLUMBAR SPINAL ABNORMALITIES IN STICKLER SYNDROME (HEREDITORY ARTHRO–OPHTHALMOPATHY)

Peter S. Rose, BS';
Nicholas U. Ahn, MD2;
Howard P. Levy, MD, PhD';
Uri M. Ahn, MD2;
Joie Davis MSN, CPNP';
Ruth N. Liberfarb, MD, PhD';
Leelekrishna Nallamshetty, BS2;
Paul D. Sponseller, MD2;
Clair A. Francomano, MD'
'National Human Genome Research Institute, NIH, Bethesda, MD
and 2Department of Orthopaedic Surgery, Johns Hopkins Hospital, Baltimore, MD, USA

Stickler syndrome (hereditary arthro–ophthalmopathy) is an autosomal dominant connective tissue disorder characterized by skeletal, ocular, oral–facial, cardiac, and auditory manifestations. Prevalence is approximately 1/10,000 (similar to that of Marfan syndrome). Scoliosis and other spinal abnormalities are common in Stickler syndrome, but no previous study has examined the thoracolumbar spine in a large series of patients. We reviewed clinical and radiographic records of 53 patients (age 1–70 years) from 34 families with Stickler syndrome seen at a single center. Thirty–four percent of patients had scoliosis, 74% endplate abnormalities, 64% Schmorl's nodes, 43% platyspondyly, and 43% had a Scheuermann–like kyphosis. Of note, 22% of scoliotic curves had a primary left orientation. Sixty–seven percent of patients and 85% of adults reported back pain. Endplate abnormalities and Schmorl's nodes were associated with adult age; endplate abnormalities, Schmorl's nodes, and adult age were associated with back pain. Only one adult patient had a normal thoracolumbar spine. Spinal abnormalities are nearly uniformly observed in Stickler syndrome, progress with age, and are associated with back pain. Although common, scoliosis is generally self–limited (only one patient required surgical treatment). Correct diagnosis of this syndrome facilitates early identification and management of other potentially severe systemic manifestations and genetic counseling for affected families. Moreover, recognition of Stickler syndrome allows accurate prognosis for skeletal abnormalities and anticipation of potential surgical complications.