Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic muscle weakness: A variant of Niikawa-Kurold syndrome or a new syndrome?

We report a 10-year-old boy with multiple congenital anomalies/mental retar dation syndrome, who also presented with aganglionosis and neurogenic muscl e weakness. Some phenotypic manifestations of our patient overlap with thos e observed in the Niikawa-Kuroki syndrome; however, the hypothesis of a new distinct entity, with simultaneous involvement of the central and peripher al nervous system, is considered.