Radial Ray Hypoplasia-Choanal Atresia Syndrome

An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.

Epidemiology

It has been reported in a father and his two daughters.

Clinical description

The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb.

Genetic counseling

The condition is most probably hereditary, transmitted as an autosomal dominant trait.