Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation

Am J Med Genet A. 2003 Feb 1;116A(4):381-4. doi: 10.1002/ajmg.a.10023.

Abstract

We report two male cousins with short stature, microcephaly, hypertelorism, optic atrophy, ptosis, absent ear lobes, high-arched palates, abnormal EEG, and severe mental retardation. Both cousins have consanguineous parents. Differential diagnoses are discussed and the possibility that we might be reporting on a new syndrome is raised.

Publication types

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

MeSH terms

  • Abnormalities, Multiple*
  • Child
  • Child, Preschool
  • Consanguinity
  • Electroencephalography
  • Face / abnormalities*
  • Humans
  • Intellectual Disability* / genetics
  • Intellectual Disability* / pathology
  • Male
  • Microcephaly* / genetics
  • Microcephaly* / pathology
  • Optic Atrophy* / congenital
  • Optic Atrophy* / genetics
  • Optic Atrophy* / pathology
  • Syndrome