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At a glance

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

Synonym

Craniofaciocervical Osteoglyphic Dysplasia.

Incidence

One sporadic case in Greece has been described.

Genetic inheritance

The inheritance pattern remains unknown. One may suggest that it is autosomal recessive trait with a rare genetic sporadic mutation.

Diagnosis

Based on the clinical picture.

Clinical aspects

The mentally normal patient had progressive neck stiffness starting at the age of 6 years, followed by generalized, progressive alveolar bone loss, and intraosseous radiolucent lesions in cranium and cervical vertebrae. A biopsy revealed osseous destruction with nonspecific chronic inflammation. As an adult, neck mobility was significantly reduced mainly secondary to fused cervical vertebrae. Other reported features included hypoplasia of maxilla, microstomia, and crossbite.

Precautions before anesthesia

Check for difficult airway management including neck mobility, mouth opening, and neurological assessment of cervical nerves.

Anesthetic considerations

The main issue for anesthesia is the severe neck rigidity and microstomia, which might make tracheal intubation potentially very difficult. If difficult airway management is expected, maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Alternatively, an awake fiberoptic intubation should be considered. However, the propositus had several surgical interventions and no anesthetic difficulties were reported.

Pharmacological implications

None specific to this syndrome.

Reference

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Bazopoulou-Kyrkanidou  E, Vrotsos  I, Kyrkanides  S,  et al: Hyper-brachycephaly, 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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