The heritability of coronal and sagittal phenotype in idiopathic scoliosis: a report of 12 monozygotic twin pairs

Abstract

Purpose: One of the pathways through which genetics may act in the causation of idiopathic scoliosis is inheritance of a specific sagittal profile that predisposes for its development. In this study, coronal and sagittal parameters were compared in an international collection of monozygotic twins with idiopathic scoliosis. Methods: Twelve monozygotic twin pairs who underwent biplanar radiography for idiopathic scoliosis were systematically identified in existing scoliosis databases in The Netherlands, Sweden, and Denmark. On the first available radiographs, the coronal and sagittal curve parameters (Roussouly and Abelin types, thoracic kyphosis, lumbar lordosis and length of the posteriorly inclined segment) were determined. Results: In all 12 monozygotic twin pairs, both twins were affected by AIS. Four (33%) twin pairs had similar coronal and sagittal spinal phenotype, whereas two (17%) had different coronal phenotype and similar sagittal profiles, and six (50%) pairs had different coronal as well as sagittal phenotype. Conclusions: Analysis of biplanar curve characteristics in monozygotic twins showed that all twin pairs were affected by idiopathic scoliosis. However, only 33% of the pairs had similar coronal and sagittal spinal phenotypes. Based on this limited dataset, the hypothesis can be formulated that besides genetic pre-disposition, the individual (inherited) sagittal profile plays a role in the development of different coronal curve type.