Cole‐Carpenter Syndrome - A case report

Abstract

Cole-Carpenter Syndrome is a rare variant of osteogenesis imperfecta characterised by features of both osteogenesis imperfecta and craniosynostosis. Since the initial two cases reported in 1987, there have been only a handful of reports of the condition, none of which have displayed features identical to the initial cases. We report a case of Cole-Carpenter syndrome with physical and radiological features remarkably similar to the original two cases. The female infant was noted at delivery to have short limbs, brachycephaly and unusual dysmorphic features. A skeletal survey showed generalised osteopenia with shortened and bowed long bones and moderate metaphyseal irregularity. The ribs were ..