Extremely rare syndrome with mainly face and hand
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
Castro-Gago M, Pombo M, Novo I, et al: Sindrome familiar de microcefalia
con albinismo oculocutaneo y anomalias digitales. Ann Esp Pediatr