Aughton Syndrome

At a glance

Extremely rare medical condition characterized by dextrocardia, facial, ophthalmological, and neurological abnormalities.

Synonym

Dextrocardia with Unusual Facies and Microphthalmia Syndrome.

Incidence and genetic inheritance

Two presumably unrelated Arab children, both born to consanguineous parents, have been described, suggesting that autosomal recessive transmission is most likely.

Clinical aspects

The two children had dextrocardia associated with sloping forehead, microphthalmia, prominent nose, micrognathia, and plantar folding. One child had a cleft palate, mental retardation, and choreoathetosis; the other child had vertebral fusion defects and supernumerary ribs.

Anesthetic considerations

Prior to anesthesia, associated malformations must be assessed. Difficult tracheal intubation should be expected secondary to the described malformations. Adequate anxiolysis often is helpful in the management of mentally retarded patients.

Other condition to be considered

☞Goldenhar Syndrome: Common birth defect of vascular origin involving first and second branchial arch derivatives, resulting mainly in facial and vertebral anomalies.

References