Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation

Am J Med Genet. 1995 Jul 3;57(3):403-9. doi: 10.1002/ajmg.1320570308.

Abstract

We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Blepharoptosis / genetics
  • Child
  • Chromosomes, Human, Pair 2
  • Coloboma / genetics
  • Developmental Disabilities / genetics
  • Female
  • Frontal Bone / abnormalities
  • Gyrus Cinguli / abnormalities
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Male
  • Orbit / abnormalities
  • Syndrome