The patient had progressive neck stiffness
starting at the age of 6 years, followed by generalized destruction of the
periodontium with intraosseous lucent lesions in cranium and vertebrae.
Biopsy revealed osseous destruction and nonspecific chronic inflammation. As
an adult, neck mobility was significantly reduced, and other described
features included hypoplasia of the maxilla, microstomia, and cross-bite.
Mental development was normal.