Features include mental retardation, seizures,
brachycephalic skull, cervical fusion between second and third vertebrae,
Schmorl nodes (i.e., herniations of the intervertebral disc through the
vertebral endplate) in the lumber area, pectus excavatum, and penoscrotal
hypospadias. Children have class III malocclusions with hypoplasia of the
maxilla resulting in relative mandibular prognathism, a bifid uvula or
partial cleft palate. Multiple dental cysts are present in the maxilla and
mandible with misalignment of all the teeth of the upper jaw. Nasal bones
are broad and flat, with a wide nasal tip and flared alar cartilages. All
patients had hypertelorism, nystagmus of the right eye on right and left
gaze, and divergent strabismus and slight ptosis of the right eye.
Incomplete expression of the syndrome may be associated with mental
retardation, but normal morphology.