NEUROFIBROMATOSIS-NOONAN SYNDROME

Authors
BUEHNING L CURRY CJ
Citation
L. Buehning et Cj. Curry, NEUROFIBROMATOSIS-NOONAN SYNDROME, Pediatric dermatology, 12(3), 1995, pp. 267-271
Citations number
NO
Categorie Soggetti
Dermatology & Venereal Diseases",Pediatrics
Journal title
Pediatric dermatology → ACNP
ISSN journal
07368046
Volume
12
Issue
3
Year of publication
1995
Pages
267 - 271
Database
ISI
SICI code
0736-8046(1995)12:3<267:NS>2.0.ZU;2-9
Abstract
Type I neurofibromatosis (NF-1) and Noonan syndrome (NS) are two fairl y common genetic disorders. Patients with features of both disorders h ave been described, but considerable variability of phenotypic express ion occurs. As a result, the correct nosology of this syndrome is unce rtain. We present a patient with full expression of both NF-1 and NS p henotypes, and discuss the debate regarding the genetics of the combin ed syndrome.