Radiological manifestations of the Cornelia de Lange syndrome

This paper describes the radiological findings obtained in 20 patients with the Cornelia de Lange syndrome. The pattern profiles of the hand skeleton were studied in these patients, using the method described by Poznanski et al. This study revealed a short first metacarpal bone, combined with relatively long third and fourth metacarpals, to be the most characteristic feature of the syndrome. No radiological characteristic was found to be pathognomonic of the syndrome, but the combination of a deformed proximal metaphysis of the radius with the above mentioned abnormality in the pattern profile of the hand is described as highly suggestive of the Cornelia de Lange syndrome.