The radiological findings in familial dysautonomia may be grouped into major and minor categories. At least two major signs are necessary for the radiological suspicion of the syndrome. Roentgenographic findings of permanent bowel distension, urinary bladder distension, and atony of the ureter provide additional support for the syndrome. The clinical and radiological features in seven cases are analyzed, with the purpose of making the radiological findings more familiar.
Grünebaum M. Radiological Manifestations in Familial Dysautonomia. Am J Dis Child. 1974;128(2):176-178. doi:10.1001/archpedi.1974.02110270050010