ISCHIO VERTEBRAL DYSPLASIA

Purpose of the study A previously unreported condition is defined, dia gnostic features identified, and clinical course and treatment modalit ies presented. Material and Methods This is a retrospective study of 1 1 patients with ischio-vertebral dysplasia (IVD), accomplished by reco rd and radiographic review. Results 11 patients were included in the s tudy group, age at presentation from 1 day to 33 yrs. Follow-up ranged from 5-30 yrs. Involvement of 3 successive generations (grandmother, mother and daughter) with similar findings was present in 1 family. Co mmon features of IVD include: peculiar facies, incomplete ossification of the ischial ramus, and a dysplasic scoliosis with a significant ky photic element, constituting a rotatory dislocation. 2 patients follow ed from birth demonstrated the natural history of the condition, begin ning without spinal deformity, and progressing to significant deformit y. The spinal deformity was manageable surgically. The scoliosis range d from 10 degrees to 235 degrees, and the kyphosis from 0 degrees to 2 00 degrees (the 10 and 0 being at day 1 of age). 6 patients incurred n eurological sequelae, either spontaneously or associated with surgical treatment. 2 patients died, 1 due to cardiopulmonary failure at age 3 3; the 2nd was an infant with severe neurologic and cardiopulmonary co mplications due to the spinal deformity. Multiple surgical approaches to the problems were employed. Analysis of results permitted formulati on of a logical and successful approach to the problem. Pre-op. mean k yphosis = 112 degrees, post-op at maximum follow-up = 67 degrees, Defo rmity stabilization and neurologic normalcy was produced in every pati ent operated but 1. Discussion The characteristics of the syndrome are clear, as is the progressive nature of the deformity. The very high r isk of neurologic involvement is emphasized. Before age 10, circumfere ncial fusion prevents progression and neurologic deterioration. Older patients require gradual correction by skeletal traction, followed by anterior concave strut stabilization and posterior fusion (with or wit hout instrumentation). Extreme care is necessary for protection of the particularly vulnerable neurologic structures. Early stabilization an d correction is recommended for prevention of the deterioration of car diopulmonary function.