Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome

J Pediatr Ophthalmol Strabismus. 1979 Mar-Apr;16(2):122-8. doi: 10.3928/0191-3913-19790301-10.


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.

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Coloboma / complications*
  • Ear, External / abnormalities
  • Facial Paralysis / complications
  • Female
  • Hearing Loss / complications*
  • Heart Defects, Congenital / complications*
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / complications*
  • Male
  • Microphthalmos / complications*
  • Pregnancy
  • Syndrome