Article
Newly recognized blepharofacioskeletal syndrome.
American journal of medical genetics - 1 Jul 1993
Richieri-Costa A, Guion-Almeida M L, Rodini E S, Pereira S C, Cohen M M
Abstract excerpt
A mother and daughter are described with similar facial and skeletal manifestations. The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant inheritance is suggested.
Topics
- Abnormalities, Multiple
- Adult
- Blepharophimosis
- Child
- Face
- Fingers
- Humans
- Phenotype
- Syndrome