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Craniofaciocervical osseous dysplasia associated with microstoma, short neck, and short midface. Congenital torticollis is frequently present.


Cranio-Facio-Cervical Osteoglyphic Dysplasia.


One sporadic case in Greece has been described.


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. Genet Couns 5:257, 1994.  [PubMed: 7811426]

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