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A bone disorder characterized by marked hyperostosis of the craniofacial bones and diaphyseal expansion of the tubular bones resulting in significant clinical complications.

Craniodiaphyseal Dysplasia

Airway management in this adolescent boy with craniodiaphyseal dysplasia was very difficult.

Schäfer Stein Oshman Syndrome

Fewer than 20 cases have been described in the literature. Both autosomal recessive and dominant forms but also sporadic cases have been described. In some cases the parents were consanguineous.

This syndrome is a metabolic bone disease resulting in progressive and massive thickening and sclerosis of the skull, mandible, maxilla, clavicles, and ribs. No surgical or medical cure is available. Metabolic therapy with Calcitrol to promote osteoclastic remodeling and restricted calcium intake to prevent hypercalcemia aimed at controlling the process usually are not successful. The diagnosis is confirmed by radiographs, which demonstrate diaphyseal expansion of tubular bones with sclerosis and minimal metaphyseal expansion of the epiphyses, and marked hyperostosis and sclerosis of the ribs, sternum, clavicles, and scapulae. The humeri may show endosteal cortical thickening. Diaphyseal undertubulation may lead to straightened humeri with cylindrical shape, resembling a “policeman's nightstick” or a “truncheon.” Symptoms are usually seen by approximately 3 months of age, but may start at birth and progress with bone pain, pronounced deformities such as progressive cranial hyperostosis with obliteration of the diploic spaces and the paranasal sinuses, development of foraminal encroachment leading to neuropathy with progressive deterioration of vision (nonreactive pupils have been described) and hearing, obstruction of jugular venous outflow, chronic epiphora secondary to nasolacrimal duct obstruction, chronic nasal obstruction secondary to choanal stenosis (may lead to respiratory distress in infancy), facial hyperostosis with overgrown nasal bridge, gross mandibular hyperplasia relative to the maxilla with limited mouth opening from severe immobility of the temporomandibular joints, facial muscle atrophy and weakness, mild hydrocephalus with herniation of the cerebellar tonsils through a small foramen magnum, cervical syringomyelia, mental retardation, and restricted cervical spine (especially atlantoaxial) mobility. Flexion of the neck may also be limited by the bulky mandible pressing against the chest, whereas extension of the head may be limited by the bulky occiput. Death usually occurs in childhood.

The combination of choanal stenosis, major mandibular hyperplasia, and significant limitation of mouth opening and cervical spine mobility puts these children at very high risk for difficult airway management. A clear backup plan must be in place prior to induction of anesthesia. An awake fiberoptic intubation is the technique of choice. An induction technique with maintenance of spontaneous ventilation may also be suitable. However, hypercapnia should be avoided because intracranial pressure may be increased. Successful tracheal intubation using a fiberoptic guided intubation through a laryngeal mask has been reported in the literature. Prolonged postoperative mechanical ventilation may be required, particularly when the surgery involves the face. Tracheal extubation may be performed a few days later ...

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