1552-4833/asset/olbannerleft.gif?v=1&s=dc5513758e0602016bfe88cd52afd78bf862aab9)
1552-4833/asset/olbannerright.gif?v=1&s=c3d8a0f0a45667625907578ec1e0f011cbe060b1)
Article
Proteus syndrome: Clinical evidence for somatic mosaicism and selective review
Article first published online: 7 JUN 2005
DOI: 10.1002/ajmg.1320470514
Copyright © 1993 Wiley-Liss, Inc., A Wiley Company
1552-4833/asset/cover.gif?v=1&s=9818ec8c89d0772bf0e752b15694c460afb83f9f "American Journal of Medical Genetics")
Additional Information
How to Cite
Cohen, M. M. (1993), Proteus syndrome: Clinical evidence for somatic mosaicism and selective review. Am. J. Med. Genet., 47: 645–652. doi: 10.1002/ajmg.1320470514
Publication History
- Issue published online: 7 JUN 2005
- Article first published online: 7 JUN 2005
- Manuscript Revised: 11 MAY 1993
- Manuscript Received: 7 APR 1993
- Abstract
- References
- Cited By
Keywords:
- encephalocraniocutaneous lipomatosis;
- connective tissue nevus;
- uncommon neoplasms;
- pulmonary abnormalities;
- renal abnormalities;
- brain malformations;
- severe mental deficiency;
- seizures;
- facial phenotype;
- abnormal craniofacial growth
Abstract
I report 2 unusual cases of Proteus syndrome that support the concept of somatic mosaicism. In one patient, a huge connective tissue nevus covered the chest and abdomen and hyperostoses of the calvaria were observed. In the other patient, linear verrucous epidermal nevi, epibulbar dermoids, and hyperostoses were found. No enlargement of the limbs or digits occurred and the plantar surfaces of the feet were normal. Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with seizures and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton. © 1993 Wiley-Liss, Inc.