Ischio-vertebral dysplasia: a distinct entity

Background. Kyphoscoliosis is a complication of some bone dysplasias. inclu ding cleidocranial dysplasia. Objectives. We report a distinct dis order with defective ossification of t he ischial rami, severe kyphoscoliosis and normal clavicles. Early recognit ion of this syndrome allows prevention of complications. Materials and methods. All patient cases (aged 1 day to 33 years) were sele cted according to the above criteria, with special attention to radiologica l findings, family history and follow-up (5-30 years). Results, In all eight patients, we observed the following: (a) Severe thora cic scoliosis of early onset and rapid progression, leading to rotatory dis location, Spinal cord compression occurred in four cases with respiratory p roblems related to chest deformity. (b) Bilateral and symmetrical incomplet e ossification of the ischial rami. (c) Peculiar facies with retrognathia. (d) Normal clavicles, Three patients were from the same family (grandmother , mother and daughter). Conclusion. Ischio-vertebral dysplasia seems to represent a true entity, wi th radiological and genetic findings that make it distinct from cleidocrani al dysostosis. The association of kyphoscoliosis and these pelvic abnormali ties is specific for this condition. Neurological and respiratory complicat ions can be avoided if the condition is recognised early and early treatmen t is instituted.