Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: a new example of the Chitty syndrome

Am J Med Genet. 1996 Oct 28;65(3):205-8. doi: 10.1002/(SICI)1096-8628(19961028)65:3<205::AID-AJMG6>3.0.CO;2-O.

Abstract

We have studied a girl with fibrotic extrinsic eye muscles, Axenfeld anomaly, unusual facial appearance, mild hydrocephaly, and neurodevelopmental delay. Her condition is similar to the one described recently in members of a single family by Chitty et al. [1991, Am J Med Genet 40:417-420]. We suggest that she represents a second example of what may be called the Chitty syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Child, Preschool
  • Developmental Disabilities*
  • Eye Abnormalities*
  • Face / abnormalities*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Syndrome