Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome

Am J Dis Child. 1993 Dec;147(12):1309-12. doi: 10.1001/archpedi.1993.02160360051017.

Abstract

Three affected children from an inbred family had microcornea, microcephaly, congenital cataract, severe mental retardation, retinal dystrophy, optic nerve atrophy, hypothalamic hypogenitalism, and agenesis of the corpus callosum. The disorder is presumably autosomal recessive; no identical syndrome has been described, but we consider syndromes with similar features.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cataract / congenital
  • Cataract / genetics*
  • Cornea / abnormalities*
  • Female
  • Humans
  • Hypogonadism / genetics*
  • Intellectual Disability / genetics*
  • Male
  • Microcephaly / genetics*
  • Optic Atrophy / genetics*
  • Syndrome