Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: A new syndrome?

Abstract

A 4 year 9 month old boy and his 3 year 5 month old sister presented with delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases. The same features were found in their mother, but the father had no such anomalies. To our knowledge this familial association has not been described before and may represent an autosomal dominant syndrome.