Radial Ray Hypoplasia With Choanal Atresia

This possibly 'new' syndrome described by Goldblatt and Viljoen (1987) was manifested in varying degrees in a father and 2 daughters. The father had a flattened nasal bridge, chronic blocked nose related to choanal stenosis, convergent squint, and hypoplastic left thumb with hypoplasia of the muscles of the forearm and left thenar eminence. The older daughter had flattened nasal bridge, left convergent strabismus, and hypoplastic left forearm and thumb, the latter being distally placed. The younger daughter had bilateral choanal atresia, markedly flattened nasal bridge, esotropia, absence of the left radius and left thumb, and small, distally implanted right thumb.