Radial ray hypoplasia-choanal atresia syndrome

Definition

A rare nose and cavum anomaly characterized by variable defects of the radial ray, concurrent choanal malformations and esotropia. Patients predominantly present with left radial ray hypoplasia, however the spectrum of radial ray involvement may range from totally absent radius, first metacarpal, and phalangeal bones to hypoplastic carpal and metacarpal bones and a triphalangeal thumb. There have been no further descriptions in the literature since 1987.