TY - JOUR
T1 - Proteus syndrome
T2 - Diagnostic criteria, differential diagnosis, and patient evaluation
AU - Biesecker, Leslie G.
AU - Happle, Rudolf
AU - Mulliken, John B.
AU - Weksberg, Rosanna
AU - Graham, John M.
AU - Viljoen, Denis L.
AU - Cohen, M. Michael
PY - 1999
Y1 - 1999
N2 - Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. The disorder is highly variable and appears to affect patients in a mosaic manner. This intrinsic variability has led to diagnostic confusion associated with a dearth of longitudinal data on the natural history of Proteus syndrome. To clarify some of these issues, a workshop on Proteus syndrome was held in March 1998 at the National Institutes of Health, and participants developed recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients. This is a review of those recommendations.
AB - Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. The disorder is highly variable and appears to affect patients in a mosaic manner. This intrinsic variability has led to diagnostic confusion associated with a dearth of longitudinal data on the natural history of Proteus syndrome. To clarify some of these issues, a workshop on Proteus syndrome was held in March 1998 at the National Institutes of Health, and participants developed recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients. This is a review of those recommendations.
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U2 - 10.1002/(SICI)1096-8628(19990611)84:5<389::AID-AJMG1>3.0.CO;2-O
DO - 10.1002/(SICI)1096-8628(19990611)84:5<389::AID-AJMG1>3.0.CO;2-O
M3 - Article
C2 - 10360391
AN - SCOPUS:0032913743
SN - 0148-7299
VL - 84
SP - 389
EP - 395
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 5
ER -