Colobomatous Microphthalmia, Heart Disease, Hearing Loss, and Mental Retardation-A Syndrome

TLDR

The syndrome is characterized by colobomatous microphthalmia, heart disease, external ear abnormalities with hearing loss, and mental retardation, with additional anomalies possible and incomplete presentations reported. Ten patients (nine children and one adult) were evaluated, and the study recommends assessing other systems when at least two of the four core features are present. The syndrome shows no race or sex predilection and appears heritable, as demonstrated by a mother–daughter pair.

Abstract

A syndrome consisting of colobomatous microphthalmia, heart disease, abnormalities of the external ear with associated hearing loss, and mental retardation is described. Nine children and one adult were evaluated. There is not race or sex predilection. The syndrome can be heritable, as shown by a mother and daughter who were among the patients. In addition to the four major components enumerated, multiple other anomalies may be associated. In some cases, the syndrome may occur incompletely. Whenever two or more of the four components are recognized, the other systems usually affected should be investigated.