Congenital scoliosis, supernumerary nipples and spina bifida occulta

摘要

Introduction:Vertebral segmentation defects and thoracic dysplasia are part of many lethal and nonlethal syndromes (Mortier et al., 1996). Jarcho-Levin syndrome is a lethal autosomal recessive disorder, characterized by a symmetric crab-like chest, whereas spondylocostal dysostosis (SCD) has been defined as a congenital spinal disorder consisting of more than two vertebral anomalies associated with rib defects, without a crab-like chest (Takikawa et al., 2006). SCD may be associated with facial dysmorphism, cardiac defects and/or mental retardation. We have recently seen three cases of sporadic SCD not fitting into a known syndrome