Polymalformative syndrome characterized by the
association of congenital blepharoptosis of the eyelid and lumbosacral
Posterior Lumbosacral Vertebral Fusion-Blepharop-tosis
Syndrome; Familial Posterior Lumbosacral Vertebral Fusion and Eyelid Ptosis
Based on clinical findings and radiologic findings of
vertebral fusions, especially in the lumbosacral region.
Patients have eye and musculoskeletal
involvement. They present with a congenital and bilateral ptosis and
elevator palsy. Other clinical features consist of contractures at the hip
and knee, Achilles tendon tightness, and fusion of the posterior elements of
the lumbosacral spine.
Limited movement of the hips, knees, and
lumbosacral region may complicate patient positioning and increase risk of
nerve compression and skin damage. However, the main concern is that
neuraxial regional anesthesia in the lumbar and lower thoracic region is not
recommended because of the posterior fusion.
Faulk WP, Epstein CJ, Jones MD: Familial posterior lumbosacral vertebral
fusion and eyelids ptosis. Am J Dis Child