Acro-oto-ocular syndrome: Further evidence for a new autosomal recessive disorder

Abstract

We report on a patient born to consanguineous parents and presenting with pseudopapilledema, mixed hearing loss, and minor facial and limb anomalies. To our knowledge, there is just one similar description of this syndrome in three members of a Brazilian kindred whose parents were also consanguineous, suggesting autosomal recessive inheritance. We compare the findings of our patient with these previous reported cases and discuss the differential diagnoses of this new syndrome, which we suggest be named the acro-oto-ocular syndrome.

A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders

“…Affected individuals have mixed hearing loss, pseudopapilledema, and malformations of the face, ears, hands, and feet. The patient described by Bertola et al 1997 also had auditory and visual hallucinations. Our patient had the features of these patients with the exception of pseudopapilledema and hearing loss.…”

“…Acro‐oto‐ocular syndrome is a rare autosomal recessive multisystem malformation disorder [Paes‐Alves et al, 1991; Bertola et al, 1997]. Affected individuals have mixed hearing loss, pseudopapilledema, and malformations of the face, ears, hands, and feet.…”