Abstract
We report a preterm male neonate presenting with a skeletal dysplasia
associated with multiple congenital anomalies. Radiologic findings and
genetic studies are consistent with spondylocostal dysostosis (SCD) and
autosomal dominant brachydactyly. This is the first case report of
spondylocostal dysostosis and brachydactyly associated with TBX6 and IHH
variants.