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At a glance

An extremely rare syndrome mainly characterized by face and hand anomalies.

Synonym

Microcephaly, Albinism, Digital Anomalies Syndrome.

Incidence

Described in two siblings (a boy and a girl).

Genetic inheritance

Autosomal recessive transmission.

Clinical aspects

The main characteristics of this disorder consist of cerebral cortical atrophy with mental retardation, microcephaly, micro- and retrognathia, oculocutaneous albinism, and digital anomalies (hypoplasia of the distal phalanx of fingers I, III, and IV on the right side and I, III, and V on the left side, and agenesis of the distal part of the right first toe).

Precautions before anesthesia

Check for signs of difficult airway management. 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

Anesthesia in this syndrome has not been described. The described features of micrognathia and retrognathia suggest that mask ventilation and direct laryngoscopy may be difficult, thus 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.

Pharmacological implications

None specific to this disorder.

Reference

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Castro-Gago  M, Pombo  M, Novo  I,  et al: Sindrome familiar de microcefalia con albinismo oculocutaneo y anomalias digitales. Ann Esp Pediatr 19:128–131, 1983.

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