Complete trisomy 17p a relatively new syndrome

A patient with a de novo duplication of 17p is described. A comparison with five other published cases indicates several features in common that seem characteristic of the syndrome. Primary features include, low birth weight, small size, severe mental and motor retardation, heart defect, failure to thrive and peculiar facial traits. The prominent facial features are, a tendency for round and flat mid face, small palpebral fissures, hypertelorism, microcephaly and low set prominent ears.