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Group of diseases characterized by craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting primarily of brachydactyly, syndactyly, and polysyndactyly. A number of different subtypes exist but considerable phenotypic overlap occurs, so investigators now consider many of these syndromes to represent variants of the same disease. The classification into subtypes in the literature is conflicting. Furthermore, the classification of acrocephalosyndactyly versus acrocephalopolysyndactyly is regarded by many as a pseudodistinction.

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Acrocephalosyndactyly syndromes are characterized by craniosynostosis, dysmorphic facial features, and severe syndactyly of the hands and feet.

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Acrocephalosyndactyly syndromes classically have been divided into five subtypes:

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  • Acrocephalosyndactyly Type I = Apert syndrome
  • Acrocephalosyndactyly Type II = Apert-Crouzon syndrome (most common)
  • Acrocephalosyndactyly Type III = Saethre-Chotzen syndrome
  • Acrocephalosyndactyly Type V = Pfeiffer syndrome

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Autosomal dominant. Increased paternal age is considered a risk factor.

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These syndromes result from mutations in the gene encoding FGFR-2. The responsible gene has been mapped to 10q26. The defect causes abnormal osseous development resulting in irregular bridging of the mesenchymal tissue that eventually forms bone. The cranium and distal extremities are predominantly affected.

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Based on clinical findings. Radiographic examinations confirm osseous abnormalities.

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Evaluate the head and neck anatomy in consideration of airway management (reduced size of nasopharynx, maxilla, mandible, anomalies of the palate and tracheal cartilage, combined with cervical spine abnormalities, may lead to difficult airway management). Radiographs of the cervical spine may be helpful in the evaluation process. Request echocardiography for patients with congenital cardiac lesions. Because up to one third of the children affected with these conditions present with intraoperative respiratory problems, recent upper respiratory infections might require cancellation of the procedure in these patients in the presence of an active or recent upper airway infection should be low. Preoperative chest radiograph may be helpful. Preoperative blood workup should include a complete blood count, electrolytes, creatinine, and BUN. Keep in mind that the incidence of increased intracranial pressure is 15% with one fused suture and increases to 35% with two or more sutures affected.

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Mental retardation may lead to poor cooperation upon separation from the parents or during induction of anesthesia. Difficult airway management should be expected. Maintenance of spontaneous ventilation and oxygenation during attempts to control the airway is strongly recommended. Be prepared to use alternative techniques to manage the airway (laryngeal mask, fiberoptic intubation). A surgeon familiar with surgical airway management and the necessary equipment should always be present in the operating room. Specific anesthetic measures might be required in the presence of congenital heart disease or increased intracranial pressure. The eyes must be carefully protected because of the high risk for corneal damage as a result of proptosis.

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Sedative premedication in patients with increased intracranial pressure should be used with caution and under supervision of trained personnel only. Hypotensive anesthesia is most often achieved using ...

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