Article
Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism.
American journal of medical genetics - 1 Oct 1993
Rizzo R, Pavone L, Micali G, Nigro F, Cohen M M
Abstract excerpt
We report on a patient with manifestations of encephalocraniocutaneous lipomatosis and Proteus syndrome. Further comparison with other reported patients demonstrates a continuum, not 2 distinct entities that share common manifestations. This continuum supports the concept of somatic mosaicism.
Topics
- Adolescent
- Brain Diseases
- Humans
- Lipomatosis
- Male
- Mosaicism
- Phenotype
- Proteus Syndrome
- Skin Diseases