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A disorder associated with craniosynostosis, exophthalmia, and palpebral ptosis. Radiography shows an osteogenesis imperfecta-like aspect of the skeleton.

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Four cases have been described. Autosomal dominant inheritance was suspected. The disorder may be caused by a defect in the collagen synthesis or structure.

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Patients appear normal at birth, but multiple compression fractures of the long bones are noted soon thereafter, followed by extensive demineralization with recurrent diaphyseal fractures of the weight-bearing bones before the first birthday. Short stature, kyphosis, and scoliosis are other skeletal features. Facial abnormalities may include facial structural asymmetry, development of marked frontal and temporal bossing, hypertelorism, short midface, micrognathia, depressed premaxillary region, shallow orbits with ocular proptosis, blue sclerae, dental anomalies, and craniosynostosis of the coronal and frontal sutures with rapidly progressive hydrocephalus. Normal neurologic development has been reported, but anomalies of crying, voice, and gait and generalized hypotonia are common. Osteopenia and hypercalcemia is frequent. Hydrops fetalis has been described in one case.

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Preoperative blood work should include a complete blood count and serum levels of electrolytes including calcium. With the aforementioned craniofacial anomalies, airway management should be expected to be difficult. Preservation of spontaneous ventilation until the airway has been secured is recommended. However, intracranial pressure may already be raised at the time of presentation for cranial surgery (secondary to craniosynostosis), requiring a rapid-sequence induction. Succinylcholine is best avoided because of its associated risk of fractures (fasciculations) and its negative impact on intracranial pressure. However, only a thorough clinical examination and review of the radiologic examinations can help in the decision regarding which induction technique (maintenance of spontaneous ventilation vs. rapid-sequence induction) is best suited for the patient. Careful protection of the eyes must be provided since they are at high risk for corneal damage because of proptosis. Careful intraoperative positioning is mandatory, secondary to multiple deformations and bone fragility. Central neuraxial anesthesia techniques are not contraindicated, but can be difficult to achieve. Local anesthetics should be titrated because of modifications of the perimedullar space as a result of vertebral compression fractures. Hypercalcemia should be evaluated to avoid arrhythmias.

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Osteogenesis Imperfecta: A group of rare disorders affecting the connective tissue characterized by extremely fragile bones that fracture easily during the antenatal and postnatal period (brittle bones).

Amor DJ, Savarirayan R, Schneider AS, et al: A case of Cole-Carpenter syndrome. Am J Med Genet 92:273, 2000.  [PubMed: 10842295]
Cole DEC, Carpenter TO: Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: A newly recognized type of osteogenesis imperfecta. J Pediatr 110:76, 1987.  [PubMed: 3794889]
MacDermot KD, Buckley B, Van Someren V: Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus. Clin Genet 48:217, 1995.  [PubMed: 8591675]

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