Castro-Gago-Pombonovo Syndrome

Extremely rare syndrome with mainly face and hand anomalies.

Microcephaly, Albinism, Digital Anomalies Syndrome.

Fewer than 10 cases have been described. Autosomal recessive transmission.

Microcephaly, cerebral cortical atrophy with mental retardation, micrognathia, 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) have been described.

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. In that case, spontaneous ventilation should be maintained until the airway has been secured.