Ischio-spinal dysostosis: a previously unrecognised combination of malformations

Background. Ischial hypoplasia is an extremely rare malformation, both as a n isolated anomaly and as a syndromic constituent. Objective. To elucidate the clinical and radiological characteristics in fi ve patients with the combination of ischial hypoplasia and spinal malformat ions. Materials and methods. The clinical records and radiographs of two females and three males, ranging in age from 3 months to 38 years, were evaluated. Results. Ossification defects of the ischial rami were symmetrical and tota l in four patients, whereas the right ischial ramus was partly ossified in the other patient,;all patients possessed multiple segmental defects of the spine, with rib anomalies of varying severity. One patient characteristica lly showed multiple rib gaps, resulting in respiratory distress. Severe ano malies of the cervical spine were evident in two patients. Four patients ex hibited lumbosacral hypoplasia, which ultimately led to cauda equina syndro me in three older patients. One patient had mild facial dysmorphism and ano ther had a diversity of anomalies, including ichthyosiform skin changes. Fo ur patients were sporadic cases, whereas the other patient was born to cons anguineous parents. Conclusions. The combination of anomalies in these patients constitutes a r ecognisable pattern of malformations but may represent a heterogeneous grou p of disorders.