Initially described in a 16-year-old girl with
congenital optic atrophy, posterior hemivertebrae with cervical kyphosis,
and hypoplasia of distal phalanges. The second child with this syndrome had
short stature, hypoplasia of the cervical vertebral bodies, and some degree
of mental retardation, which possibly was attributable to visual and
auditory impairment. Spastic quadriparesis was present in both cases.