Ophthalmomandibulomelic Dysplasia

Clinical Features

The designation ophthalmomandibulomelic dysplasia was given by Pillay (1964) to a syndrome he observed in a father, son and daughter. Changes were found in the eye (corneal clouding), in the mandible (temporomandibular fusion, absent coronoid process, obtuse mandibular angle) and limbs (radiohumeral and radioulnar dislocations, aplasia of the lateral humeral condyle, radial head and distal ulna, etc.). Chromosome studies were negative.