New case of the Carey-Fineman-Ziter syndrome

Am J Med Genet. 1994 Nov 1;53(2):163-4. doi: 10.1002/ajmg.1320530208.


We present a further case, the fourth known to us, of the Carey-Fineman-Ziter syndrome. The emergence of a consistent and recognisable phenotype, characterised by hypotonia, weakness, ophthalmoplegia, and a Möbius-like clinical picture, is emphasised.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Face / abnormalities*
  • Foot Deformities / genetics
  • Humans
  • Male
  • Muscle Hypotonia / genetics*
  • Ophthalmoplegia / genetics*
  • Phenotype
  • Syndrome