Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

J Med Genet. 1999 Aug;36(8):637-40.

Abstract

We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.

Publication types

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

MeSH terms

  • Abnormalities, Multiple*
  • Brain / pathology
  • Cataract* / congenital
  • Cataract* / genetics
  • Cataract* / pathology
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability* / genetics
  • Intellectual Disability* / pathology
  • Magnetic Resonance Imaging
  • Male
  • Microcephaly* / genetics
  • Microcephaly* / pathology
  • Optic Atrophy* / congenital
  • Optic Atrophy* / genetics
  • Optic Atrophy* / pathology
  • Pedigree
  • Pregnancy
  • Syndrome