Facial features described include
macrodolichocephaly, arched eyebrows, antimongoloid eye slant, beaked nose,
low-set ears, lop ears, long philtrum, short upper lip, micrognathia, and
hypertelorism. Coloboma of the iris (“keyhole” appearance), retina, and choroid are present, and
lens dislocation may occur. Mental retardation is present and the absence of
the corpus callosum can be demonstrated radiographically. Connective-tissue
dysplasia is a feature of the syndrome and results in aortic dilatation and
aortic regurgitation.