Misdiagnosis of neurofibromatosis type 1 as Proteus syndrome [3]

Panminerva Medica

Volumn 47, Issue 3, 2005, Pages 197-

  Biesecker, L G ^a   Cohen Jr , M M ^b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b DALHOUSIE UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DIAGNOSTIC ERROR; HUMAN; LETTER; MULTIPLE CANCER; NEUROFIBROMATOSIS;

DIAGNOSTIC ERRORS; HUMANS; NEUROFIBROMATOSIS 1; PROTEUS SYNDROME;

EID: 33644926662     PISSN: 00310808     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (6)

1. Cardoso MT, de Carvalho TB, Casulari LA, Ferrari I. Proteus syndrome and somatic mosaicism of the chromosome 16. Panminerva Med 2003;45:267-71.
2. Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 1999;84:389-95.
3. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988;45:575-8.
4. Biesecker LG. The multifaceted challenges of Proteus syndrome. JAMA 2001;285:2240-3.
5. Turner JT, Cohen MM Jr, Biesecker LG. Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet 2004;130A:111-22.
6. Cohen MM Jr. The elephant man did not have neurofibromatosis. Proc Greenwood Genet Cen 1987;6:187-92.