Acrocephalopolysyndactylous Dysplasia

Polymalformative syndrome presenting with acrocephaly, cervical cavernous lymphangioma, multiple visceral malformations, short neck, and macroglossia. May be associated with Beckwith-Wiedemann syndrome in neonates.

Elejalde Syndrome. (A different syndrome also called Elejalde Syndrome has been described.) To avoid confusion, we recommend reserving this name for the syndrome described in section “E.”

Extremely rare abnormality of fetal development of unknown cause. Four cases have been reported.

Autosomal recessive trait most possible. No genetic background or molecular data are available.

At birth, the diagnosis is made based on the clinical aspect: high birth weight, swollen and globular body, short neck with redundant skin folds, postaxial polydactyly, omphalocele, and enlarged liver and kidneys with renal dysplasia. Craniosynostosis has been described in one case.

No published data on the anesthetic management or pharmacological implications in this syndrome are available. Precautions before anesthesia and anesthetic considerations must refer to data concerning omphalocele, renal failure, and craniosynostosis. In neonates, carefully look for any associated heart anomalies by echocardiography and rule out Beckwith-Wiedemann syndrome, which combines gigantism, macroglossia, hypoglycemia, and omphalocele. Evaluate for possible airway obstruction and difficult tracheal intubation related to short neck and macroglossia. Assess renal function with blood and urine analysis (electrolytes, urea, creatinine).

Fluid and electrolyte intake must be adapted to renal function. In case of suspected difficult tracheal intubation, maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be available (e.g., laryngeal mask airway, fiberoptic bronchoscope). In the presence of an omphalocele, intrathoracic, central venous, and intraabdominal pressures should be carefully monitored upon closure of the parietal defect.

Drugs with predominantly renal elimination should be used cautiously. In case of suspected difficult tracheal intubation, neuromuscular blockers should be avoided until the airway has been secured. Avoid use of nitrous oxide during surgical repair of omphalocele because of risk for bowel distension.