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At a glance

Extremely rare genetic disorder characterized by marked malformations of the head and face, polysyndactyly, and congenital heart defects, which may result in early death. This syndrome includes ulnar deviation of digits II and III and clinodactyly and camptodactyly. Goodman Syndrome is now considered to be a variant of Carpenter Syndrome.

Incidence

Unknown.

Genetic inheritance

Autosomal recessive inheritance.

Diagnosis

Based on the clinical and radiological findings.

Clinical aspects

Acrocephaly secondary to craniosynostosis and syndactyly, clinodactyly, and camptodactyly. Ulnar deviation of digits II and III seems characteristic. An association with congenital heart defects has been reported: one child died of Eisenmenger Syndrome. Hydrocephalus and raised intracranial pressure (ICP) occur, especially in patients with several fused sutures.

Precautions before anesthesia

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 clinical suspicion of congenital cardiac lesions. A preoperative chest x-ray may be helpful. Preoperative blood workup should include a complete blood count, serum electrolytes, creatinine, and urea. Keep in mind that the incidence of increased ICP is 15% with one fused suture and 35% with two or more sutures affected. Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial.

Anesthetic considerations

Difficult airway management should be 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. Cardiac anomalies may require a specific and tailored anesthetic approach. Meticulous attention should be paid to avoid air bubbles in infusion-lines in patients with right-to-left shunts. Antibiotic prophylaxis for subacute bacterial endocarditis may be required. The anesthetic management should take increased ICP into consideration and aim at maintaining an appropriate cerebral perfusion pressure while at the same time avoiding further increases in ICP. The eyes must be carefully protected due to the high risk for corneal damage as a result of proptosis. Current surgical technique for craniosynostosis consists of total cranial vault reconstruction, which carries a high risk of major blood loss (often significantly more than one circulating blood volume). Large-bore intravenous access with the possibility to transfuse rapidly is mandatory. However, vascular access in these patients ...

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