Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?

Am J Med Genet. 1999 Mar 12;83(2):82-7.

Abstract

We report on 2 male cousins with minor facial anomalies, microcephaly, colobomatous microphthalmia, psychomotor retardation, short stature, and skeletal malformations. The children belong to a highly inbred family. We conclude that these patients have a previously undescribed autosomal-recessive syndrome.

Publication types

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

MeSH terms

  • Body Height / genetics
  • Bone and Bones / abnormalities
  • Bone and Bones / diagnostic imaging
  • Child, Preschool
  • Coloboma / diagnosis
  • Coloboma / genetics*
  • Consanguinity
  • Face / pathology
  • Female
  • Genes, Recessive*
  • Humans
  • Infant
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Male
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Microphthalmos / diagnosis
  • Microphthalmos / genetics*
  • Pedigree
  • Psychomotor Disorders / diagnosis
  • Psychomotor Disorders / genetics*
  • Radiography
  • Syndrome