Congenital Radioulnar Synostosis with Metacarpal Fusion - A Unique Presentation

Congenital skeletal dysplasias and dysostosis are very rare conditions that lead to bone and joint abnormalities, including growth deficiencies, fractures, and vertebral defects that can be debilitating to affected patients. Although many disorders are well recognized, there exist patterns and combinations of skeletal defects which have not yet been described. We present the case of a 17-year-old male with a unique combination of congenital radioulnar synostosis, fourth and fifth metacarpal fusion, carpal bone fusion, and thumb aplasia not previously described in the literature.

Keywords: Radioulnar synostosis, metacarpal fusion, thumb aplasia, skeletal dysplasia, congenital.