Craniofaciocervical osseous dysplasia associated with
microstoma, short neck, and short midface. Congenital torticollis is
Cranio-Facio-Cervical Osteoglyphic Dysplasia.
One sporadic case in Greece has
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.
Main issue for anesthesia is severe neck
rigidity and microstomia, which might make tracheal intubation very difficult. However, the
propositus had several surgical interventions, and no anesthetic
difficulties were reported.
Bazopoulou-Kyrkanidou E, Vrotsos I, Kyrkanides S, et al:
Hyperbrachycephaly, short face, midface hypoplasia, fusion of cervical
vertebrae, radiolucent bone defects and severe destruction of
periodontium—A new syndrome: Craniofaciocervical osteoglyphic dysplasia.