Article
New case of the Carey-Fineman-Ziter syndrome.
American journal of medical genetics - 1 Nov 1994
Baraitser M, Reardon W
Abstract excerpt
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.
Topics
- Abnormalities, Multiple
- Child, Preschool
- Face
- Foot Deformities
- Humans
- Male
- Muscle Hypotonia
- Ophthalmoplegia
- Phenotype
- Syndrome