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Volumn 130 A, Issue 2, 2004, Pages 111-122

Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases

Author keywords

Asymmetry; Cerebriform connective tissue nevus; Disorganized bone; Disproportionate overgrowth; Hemihyperplasia; Hyperostoses; Lipomas

Indexed keywords

BONE MALFORMATION; CALCIFICATION; CANCER DIAGNOSIS; CENTRAL NERVOUS SYSTEM MALFORMATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; EYE DISEASE; GROWTH DISORDER; HUMAN; HYPEROSTOSIS; LUNG CYST; MULTIPLE CANCER; NEVUS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; SCOLIOSIS; SEX RATIO; TOOTH DISEASE; TUMOR;

EID: 4644251811     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30327     Document Type: Review
Times cited : (175)

References (168)
  • 2
    • 33646225152 scopus 로고
    • True macrodactyly und lungenfehlbildungen
    • Toksdorf M, Spranger J, editors. 3 Symposium in Kiel Friedrichsdorf: Milupa
    • Aldenhoff P, Kunze J, Kaufmann HJ. 1982. True macrodactyly und lungenfehlbildungen. In: Toksdorf M, Spranger J, editors. Klinische Genetik in der Padiatrie; 3 Symposium in Kiel 1981. Friedrichsdorf: Milupa. pp 299-307.
    • (1981) Klinische Genetik in der Padiatrie , pp. 299-307
    • Aldenhoff, P.1    Kunze, J.2    Kaufmann, H.J.3
  • 3
    • 0029366958 scopus 로고
    • Proteus syndrome: Association with gingival hyperplasia
    • Arendorf TM, Hanslo B. 1995. Proteus syndrome: Association with gingival hyperplasia. J Oral Pathol Med 24:383-384.
    • (1995) J Oral Pathol Med , vol.24 , pp. 383-384
    • Arendorf, T.M.1    Hanslo, B.2
  • 4
    • 0000260293 scopus 로고    scopus 로고
    • Naevi and other development defects
    • Champion RH, Burton JL, Burns DA, Breathnach SM, editors. Oxford: Blackwell Scientific Publication
    • Atherton DJ. 1998. Naevi and other development defects. In: Champion RH, Burton JL, Burns DA, Breathnach SM, editors. Textbook of dermatology. 6th edition. Oxford: Blackwell Scientific Publication. pp 519-616.
    • (1998) Textbook of Dermatology. 6th Edition , pp. 519-616
    • Atherton, D.J.1
  • 6
    • 0023618955 scopus 로고
    • Radiologic findings in the Proteus syndrome
    • Azouz EM, Costa T, Fitch N. 1987. Radiologic findings in the Proteus syndrome. Pediatr Radiol 17:481-485.
    • (1987) Pediatr Radiol , vol.17 , pp. 481-485
    • Azouz, E.M.1    Costa, T.2    Fitch, N.3
  • 7
    • 0027517227 scopus 로고
    • Pathology of osseous and genitourinary lesions of Proteus syndrome
    • Bale PM, Watson G, Collins F. 1993. Pathology of osseous and genitourinary lesions of Proteus syndrome. Pediatr Pathol 13:797-809.
    • (1993) Pediatr Pathol , vol.13 , pp. 797-809
    • Bale, P.M.1    Watson, G.2    Collins, F.3
  • 10
    • 0025039486 scopus 로고
    • Pelvic lipomatosis in the Proteus syndrome: A further diagnostic sign
    • Beluffi G, DiGiulio G, Fiori P. 1990. Pelvic lipomatosis in the Proteus syndrome: A further diagnostic sign. Eur J Pediatr 149:866.
    • (1990) Eur J Pediatr , vol.149 , pp. 866
    • Beluffi, G.1    DiGiulio, G.2    Fiori, P.3
  • 11
    • 0018717890 scopus 로고
    • Fibrocartilaginous lesions of bone and hemangiomas and lipomas of soft tissue resembling Maffucci's syndrome. A case report
    • Bender BL, Yunis E. 1979. Fibrocartilaginous lesions of bone and hemangiomas and lipomas of soft tissue resembling Maffucci's syndrome. A case report. J Bone Joint Surg Am 61:1104-1108.
    • (1979) J Bone Joint Surg Am , vol.61 , pp. 1104-1108
    • Bender, B.L.1    Yunis, E.2
  • 14
    • 0023685144 scopus 로고
    • Proteus syndrome versus Bannayan-Zonana syndrome: A problem in differential diagnosis
    • Bialer MG, Riedy MJ, Wilson WG. 1988. Proteus syndrome versus Bannayan-Zonana syndrome: A problem in differential diagnosis. Eur J Pediatr 148:122-125.
    • (1988) Eur J Pediatr , vol.148 , pp. 122-125
    • Bialer, M.G.1    Riedy, M.J.2    Wilson, W.G.3
  • 16
    • 0035795598 scopus 로고    scopus 로고
    • The multifaceted challenges of Proteus syndrome
    • Biesecker LG. 2001. The multifaceted challenges of Proteus syndrome. JAMA 285:2240-2243.
    • (2001) JAMA , vol.285 , pp. 2240-2243
    • Biesecker, L.G.1
  • 22
    • 0021524827 scopus 로고
    • Further and new details on the Proteus syndrome
    • Burgio GR, Wiedemann HR. 1984. Further and new details on the Proteus syndrome. Eur J Pediatr 143:71-73.
    • (1984) Eur J Pediatr , vol.143 , pp. 71-73
    • Burgio, G.R.1    Wiedemann, H.R.2
  • 26
    • 0030897565 scopus 로고    scopus 로고
    • Non-operative management of a splenic laceration in a patient with the Proteus syndrome
    • Ceelen W, De Waele J, Kunnen M, de Hemptinne B. 1997. Non-operative management of a splenic laceration in a patient with the Proteus syndrome. J Accid Emerg Med 14:111-113.
    • (1997) J Accid Emerg Med , vol.14 , pp. 111-113
    • Ceelen, W.1    De Waele, J.2    Kunnen, M.3    De Hemptinne, B.4
  • 29
    • 0031925972 scopus 로고    scopus 로고
    • Pediatric peripheral neuropathy in Proteus syndrome
    • Choi ML, Wey PD, Borah GL. 1998. Pediatric peripheral neuropathy in Proteus syndrome. Ann Plast Surg 40:528-532.
    • (1998) Ann Plast Surg , vol.40 , pp. 528-532
    • Choi, M.L.1    Wey, P.D.2    Borah, G.L.3
  • 30
    • 0030456317 scopus 로고    scopus 로고
    • Sutural exostoses, rib hyperostoses, craniosynostosis, mental retardation with focal fat deposition: Proteus syndrome?
    • Christianson AL, Van Allen MI. 1996. Sutural exostoses, rib hyperostoses, craniosynostosis, mental retardation with focal fat deposition: Proteus syndrome? Am J Med Genet 66:150-153.
    • (1996) Am J Med Genet , vol.66 , pp. 150-153
    • Christianson, A.L.1    Van Allen, M.I.2
  • 32
    • 0001347224 scopus 로고
    • The Elephant Man did not have neurofibromatosis
    • Cohen MM Jr. 1987. The Elephant Man did not have neurofibromatosis. Proc Greenwood Genet Cent 6:187-192.
    • (1987) Proc Greenwood Genet Cent , vol.6 , pp. 187-192
    • Cohen Jr., M.M.1
  • 33
    • 0024238804 scopus 로고
    • Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever
    • Cohen MM Jr. 1988a. Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever. Neurofibromatosis 1:260-280.
    • (1988) Neurofibromatosis , vol.1 , pp. 260-280
    • Cohen Jr., M.M.1
  • 34
    • 0345609763 scopus 로고
    • Further diagnostic thoughts about the Elephant Man
    • Cohen MM Jr. 1988b. Further diagnostic thoughts about the Elephant Man. Am J Med Genet 29:777-782.
    • (1988) Am J Med Genet , vol.29 , pp. 777-782
    • Cohen Jr., M.M.1
  • 35
    • 0027377929 scopus 로고
    • Proteus syndrome: Clinical evidence for somatic mosaicism and selective review
    • Cohen MM Jr. 1993. Proteus syndrome: Clinical evidence for somatic mosaicism and selective review. Am J Med Genet 47:645-652.
    • (1993) Am J Med Genet , vol.47 , pp. 645-652
    • Cohen Jr., M.M.1
  • 36
    • 0344985562 scopus 로고
    • Putting a foot in one's mouth or putting a foot down: Nonspecificity v. specificity of the connective tissue nevus in proteus syndrome
    • Cohen MM Jr. 1995. Putting a foot in one's mouth or putting a foot down: Nonspecificity v. specificity of the connective tissue nevus in proteus syndrome. Proc Greenwood Genet Cent 14:11-13.
    • (1995) Proc Greenwood Genet Cent , vol.14 , pp. 11-13
    • Cohen Jr., M.M.1
  • 37
    • 85044699606 scopus 로고    scopus 로고
    • Causes of premature death in Proteus syndrome
    • Cohen MM Jr. 2001. Causes of premature death in Proteus syndrome. Am J Med Genet 101:1-3.
    • (2001) Am J Med Genet , vol.101 , pp. 1-3
    • Cohen Jr., M.M.1
  • 39
    • 0012265768 scopus 로고    scopus 로고
    • Proteus syndrome
    • Cohen MM, Neri G, Weksberg R, editors. New York: Oxford University Press
    • Cohen MM Jr, Neri G, Weksberg R. 2002. Proteus syndrome. In: Cohen MM, Neri G, Weksberg R, editors. Overgrowth syndromes. New York: Oxford University Press. pp 75-110.
    • (2002) Overgrowth Syndromes , pp. 75-110
    • Cohen Jr., M.M.1    Neri, G.2    Weksberg, R.3
  • 43
    • 0022373561 scopus 로고
    • Proteus syndrome: Report of two cases with pelvic lipomatosis
    • Costa T, Fitch N, Azouz EM. 1985. Proteus syndrome: Report of two cases with pelvic lipomatosis. Pediatrics 76:984-989.
    • (1985) Pediatrics , vol.76 , pp. 984-989
    • Costa, T.1    Fitch, N.2    Azouz, E.M.3
  • 44
    • 0023620005 scopus 로고
    • The Proteus syndrome: The magnetic resonance and radiological features
    • Cremin BJ, Viljoen DL, Wynchank S, Beighton P. 1987. The Proteus syndrome: The magnetic resonance and radiological features. Pediatr Radiol 17:486-488.
    • (1987) Pediatr Radiol , vol.17 , pp. 486-488
    • Cremin, B.J.1    Viljoen, D.L.2    Wynchank, S.3    Beighton, P.4
  • 47
    • 0028096078 scopus 로고
    • Proteus syndrome and unilateral congenital windblown hand deformity
    • De Smet L, Fryns JP. 1994. Proteus syndrome and unilateral congenital windblown hand deformity. Am J Med Genet 49:136.
    • (1994) Am J Med Genet , vol.49 , pp. 136
    • De Smet, L.1    Fryns, J.P.2
  • 49
    • 0032750709 scopus 로고    scopus 로고
    • Proteus syndrome: Craniofacial and cerebral MRI
    • DeLone DR, Brown WD, Gentry LR. 1999. Proteus syndrome: Craniofacial and cerebral MRI. Neuroradiology 41:840-843.
    • (1999) Neuroradiology , vol.41 , pp. 840-843
    • DeLone, D.R.1    Brown, W.D.2    Gentry, L.R.3
  • 52
    • 0028030897 scopus 로고
    • Two-year-old boy with Proteus syndrome and fatal pulmonary thromboembolism
    • Eberhard DA. 1994. Two-year-old boy with Proteus syndrome and fatal pulmonary thromboembolism. Pediatr Pathol 14:771-779.
    • (1994) Pediatr Pathol , vol.14 , pp. 771-779
    • Eberhard, D.A.1
  • 55
    • 0014360611 scopus 로고
    • A possible case of Maffucci's syndrome: Report of case
    • Fay JT, Schow SR. 1968. A possible case of Maffucci's syndrome: Report of case. J Oral Surg 26:739-744.
    • (1968) J Oral Surg , vol.26 , pp. 739-744
    • Fay, J.T.1    Schow, S.R.2
  • 57
  • 58
    • 0018225950 scopus 로고
    • Peripheral nerve hamartoma with macrodactyly in the hand: Report of three cases and review of the literature
    • Frykman GK, Wood VE. 1978. Peripheral nerve hamartoma with macrodactyly in the hand: Report of three cases and review of the literature. J Hand Surg [Am] 3:307-312.
    • (1978) J Hand Surg [Am] , vol.3 , pp. 307-312
    • Frykman, G.K.1    Wood, V.E.2
  • 59
    • 0029742245 scopus 로고    scopus 로고
    • The isolated collagenoma: A case report with a review of connective tissue nevi of the collagen type
    • Gautman RK, Kar KH, Jain KR, Bagga GR, Sharma KS, Bhardwaj M. 1996. The isolated collagenoma: A case report with a review of connective tissue nevi of the collagen type. J Dermatol 23:176-178.
    • (1996) J Dermatol , vol.23 , pp. 176-178
    • Gautman, R.K.1    Kar, K.H.2    Jain, K.R.3    Bagga, G.R.4    Sharma, K.S.5    Bhardwaj, M.6
  • 61
    • 0034640644 scopus 로고    scopus 로고
    • Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome
    • Gilbert-Barness E, Cohen MM Jr, Opitz JM. 2000. Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome. Am J Med Genet 93:234-240.
    • (2000) Am J Med Genet , vol.93 , pp. 234-240
    • Gilbert-Barness, E.1    Cohen Jr., M.M.2    Opitz, J.M.3
  • 64
    • 0028041289 scopus 로고
    • The radiological features of hemimegalencephaly including three cases associated with Proteus syndrome
    • Griffiths PD, Welch RJ, Gardner-Medwin D, Gholkar A, McAllister V. 1994. The radiological features of hemimegalencephaly including three cases associated with Proteus syndrome. Neuropediatrics 25:140-144.
    • (1994) Neuropediatrics , vol.25 , pp. 140-144
    • Griffiths, P.D.1    Welch, R.J.2    Gardner-Medwin, D.3    Gholkar, A.4    McAllister, V.5
  • 65
    • 0014739716 scopus 로고
    • Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis
    • Haberland C, Perou M. 1970. Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol 22:144-155.
    • (1970) Arch Neurol , vol.22 , pp. 144-155
    • Haberland, C.1    Perou, M.2
  • 67
    • 0026712517 scopus 로고
    • Proteus syndrome: Report of the first Japanese case with special reference to differentiation from Klippel-Trenaunay-Weber syndrome
    • Hagari Y, Aso M, Shimao S, Okano T, Kurimasa A, Takeshita K. 1992. Proteus syndrome: Report of the first Japanese case with special reference to differentiation from Klippel-Trenaunay-Weber syndrome. J Dermatol 19:477-480.
    • (1992) J Dermatol , vol.19 , pp. 477-480
    • Hagari, Y.1    Aso, M.2    Shimao, S.3    Okano, T.4    Kurimasa, A.5    Takeshita, K.6
  • 68
    • 0023319298 scopus 로고
    • Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin
    • Happle R. 1987. Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16:899-906.
    • (1987) J Am Acad Dermatol , vol.16 , pp. 899-906
    • Happle, R.1
  • 70
    • 0028850378 scopus 로고
    • Hemifacial hyperplasia with meningeal involvement: A variant of Proteus syndrome?
    • Haramoto U, Kobayashi S, Ohmori K. 1995. Hemifacial hyperplasia with meningeal involvement: A variant of Proteus syndrome? Am J Med Genet 59:164-167.
    • (1995) Am J Med Genet , vol.59 , pp. 164-167
    • Haramoto, U.1    Kobayashi, S.2    Ohmori, K.3
  • 75
    • 0023132299 scopus 로고
    • Linear nevi, hemihypertrophy, connective tissue hamartomas, and unusual neoplasms in children
    • Hornstein L, Bove KE, Towbin RB. 1987. Linear nevi, hemihypertrophy, connective tissue hamartomas, and unusual neoplasms in children. J Pediatr 110:404-408.
    • (1987) J Pediatr , vol.110 , pp. 404-408
    • Hornstein, L.1    Bove, K.E.2    Towbin, R.B.3
  • 76
    • 0025332925 scopus 로고
    • The Proteus syndrome: Association with nephrogenic diabetes insipidus
    • Hotamisligil GS, Ertogan F. 1990. The Proteus syndrome: Association with nephrogenic diabetes insipidus. Clin Genet 38:139-144.
    • (1990) Clin Genet , vol.38 , pp. 139-144
    • Hotamisligil, G.S.1    Ertogan, F.2
  • 80
    • 0022774350 scopus 로고
    • Pleiotropy versus heterogeneity in Proteus syndrome
    • Kousseff BG. 1986. Pleiotropy versus heterogeneity in Proteus syndrome. Pediatrics 78:544-546.
    • (1986) Pediatrics , vol.78 , pp. 544-546
    • Kousseff, B.G.1
  • 81
    • 0025929335 scopus 로고
    • Craniofacial characteristics of Proteus syndrome: Two modes of abnormal growth
    • Kreiborg S, Cohen MM Jr, Skovby F. 1991. Craniofacial characteristics of Proteus syndrome: Two modes of abnormal growth. Proc Finn Dent Soc 87:183-188.
    • (1991) Proc Finn Dent Soc , vol.87 , pp. 183-188
    • Kreiborg, S.1    Cohen Jr., M.M.2    Skovby, F.3
  • 82
    • 0027388812 scopus 로고
    • Transmission of Proteus syndrome from mother to son?
    • Kruger G, Pelz L, Wiedemann HR. 1993. Transmission of Proteus syndrome from mother to son? Am J Med Genet 45:117-118.
    • (1993) Am J Med Genet , vol.45 , pp. 117-118
    • Kruger, G.1    Pelz, L.2    Wiedemann, H.R.3
  • 83
    • 0030183641 scopus 로고    scopus 로고
    • Isolated macrodactyly and Proteus syndrome
    • Lacombe D, Battin J. 1996. Isolated macrodactyly and Proteus syndrome. Clin Dysmorphol 5:255-257.
    • (1996) Clin Dysmorphol , vol.5 , pp. 255-257
    • Lacombe, D.1    Battin, J.2
  • 85
    • 0034264307 scopus 로고    scopus 로고
    • Lymphopenia in lymphatic malformations
    • Lakshman R, Finn A. 2000. Lymphopenia in lymphatic malformations. Arch Dis Child 83:276.
    • (2000) Arch Dis Child , vol.83 , pp. 276
    • Lakshman, R.1    Finn, A.2
  • 89
    • 0025735675 scopus 로고
    • Eyelid tumors in the Proteus syndrome
    • Lessner A, Margo CE. 1991. Eyelid tumors in the Proteus syndrome. Am J Ophthalmol 111:521-522.
    • (1991) Am J Ophthalmol , vol.111 , pp. 521-522
    • Lessner, A.1    Margo, C.E.2
  • 90
    • 0021260629 scopus 로고
    • The Proteus syndrome: The emergence of an entity
    • Lezama DB, Buyse ML. 1984. The Proteus syndrome: The emergence of an entity. J Clin Dysmorphol 2:10-13.
    • (1984) J Clin Dysmorphol , vol.2 , pp. 10-13
    • Lezama, D.B.1    Buyse, M.L.2
  • 95
    • 0029315242 scopus 로고
    • Unusual distribution of enamel hypoplasia in an 11-year-old child with Proteus syndrome
    • Mason C, Roberts G. 1995. Unusual distribution of enamel hypoplasia in an 11-year-old child with Proteus syndrome. Int J Paediatr Dent 5:103-107.
    • (1995) Int J Paediatr Dent , vol.5 , pp. 103-107
    • Mason, C.1    Roberts, G.2
  • 97
    • 0026747730 scopus 로고
    • Encephalocraniocutaneous lipomatosis and the Proteus syndrome: Distinct entities with overlapping manifestations
    • McCall S, Ramzy MI, Cure JK, Pai GS. 1992. Encephalocraniocutaneous lipomatosis and the Proteus syndrome: Distinct entities with overlapping manifestations. Am J Med Genet 43:662-668.
    • (1992) Am J Med Genet , vol.43 , pp. 662-668
    • McCall, S.1    Ramzy, M.I.2    Cure, J.K.3    Pai, G.S.4
  • 99
    • 0027489993 scopus 로고
    • Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: A report of two cases
    • McMullin GP, Super M, Clarke MA. 1993. Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: A report of two cases. Clin Genet 44:249-253.
    • (1993) Clin Genet , vol.44 , pp. 249-253
    • McMullin, G.P.1    Super, M.2    Clarke, M.A.3
  • 101
    • 0027364641 scopus 로고
    • Radiological case of the month. Proteus syndrome: Benign angiolipomatous tumor with intraspinal extension
    • Mitchell CS, Wood BP. 1993. Radiological case of the month. Proteus syndrome: Benign angiolipomatous tumor with intraspinal extension. Am J Dis Child 147:1335-1336.
    • (1993) Am J Dis Child , vol.147 , pp. 1335-1336
    • Mitchell, C.S.1    Wood, B.P.2
  • 104
    • 0021962526 scopus 로고
    • Variability in the Proteus syndrome: Report of an affected child with progressive lipomatosis
    • Mucke J, Willgerodt H, Kunzel R, Brock D. 1985. Variability in the Proteus syndrome: Report of an affected child with progressive lipomatosis. Eur J Pediatr 143:320-323.
    • (1985) Eur J Pediatr , vol.143 , pp. 320-323
    • Mucke, J.1    Willgerodt, H.2    Kunzel, R.3    Brock, D.4
  • 108
    • 0025289128 scopus 로고
    • Proteus syndrome (report of three cases)
    • Nishimura G, Kozlowski K. 1990. Proteus syndrome (report of three cases). Australas Radiol 34:47-52.
    • (1990) Australas Radiol , vol.34 , pp. 47-52
    • Nishimura, G.1    Kozlowski, K.2
  • 109
    • 0030794232 scopus 로고    scopus 로고
    • Multiple, juxtasutural, cranial hyperostoses and cardiac tumor: A new hamartomatous syndrome?
    • Nishimura G, Nishimura J. 1997. Multiple, juxtasutural, cranial hyperostoses and cardiac tumor: A new hamartomatous syndrome? Am J Med Genet 71:167-171.
    • (1997) Am J Med Genet , vol.71 , pp. 167-171
    • Nishimura, G.1    Nishimura, J.2
  • 114
    • 0017080892 scopus 로고
    • Hypertrophied lumbar and muscular atrophy
    • Pawlaczyk B, Sioda T. 1976. Hypertrophied lumbar and muscular atrophy. Syndr Identification IV:3-4.
    • (1976) Syndr Identification , vol.4 , pp. 3-4
    • Pawlaczyk, B.1    Sioda, T.2
  • 115
    • 0025980480 scopus 로고
    • Anaesthesia for Proteus syndrome
    • Pennant JH, Harris MF. 1991. Anaesthesia for Proteus syndrome. Anaesthesia 46:126-128.
    • (1991) Anaesthesia , vol.46 , pp. 126-128
    • Pennant, J.H.1    Harris, M.F.2
  • 116
    • 0031608144 scopus 로고    scopus 로고
    • Proteus syndrome. A case report of a hamartomatous syndrome with severe mandibular hemihypertrophy
    • Pinto PX, Beale V, Paterson AW. 1998. Proteus syndrome. A case report of a hamartomatous syndrome with severe mandibular hemihypertrophy. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 85:82-85.
    • (1998) Oral Surg Oral Med Oral Pathol Oral Radiol Endod , vol.85 , pp. 82-85
    • Pinto, P.X.1    Beale, V.2    Paterson, A.W.3
  • 117
    • 0345471849 scopus 로고    scopus 로고
    • Proteus syndrome with widespread portwine stain naevus
    • Plotz SG, Abeck D, Plotz W, Ring J. 1998. Proteus syndrome with widespread portwine stain naevus. Br J Dermatol 139:1060-1063.
    • (1998) Br J Dermatol , vol.139 , pp. 1060-1063
    • Plotz, S.G.1    Abeck, D.2    Plotz, W.3    Ring, J.4
  • 118
    • 33646220960 scopus 로고
    • Pediatric dermatology: The world's reality in the children's skin
    • Pierini AM, Garcia-Diaz de Pierini R, Bustamante RE, editors. Amsterdam, Netherlands, NY, NY: Elsevier Science Publishers B.V./ Publishing Co.
    • Potter TS, Hashimoto K, Karlene SB. 1995. Pediatric dermatology: The world's reality in the children's skin. In: Pierini AM, Garcia-Diaz de Pierini R, Bustamante RE, editors. International Congress Series. Amsterdam, Netherlands, NY, NY: Elsevier Science Publishers B.V./ Publishing Co. pp 199-202.
    • (1995) International Congress Series , pp. 199-202
    • Potter, T.S.1    Hashimoto, K.2    Karlene, S.B.3
  • 119
    • 0036179879 scopus 로고    scopus 로고
    • Genital tract tumors in Proteus syndrome: Report of a case of bilateral paraovarian endometrioid cystic tumors of borderline malignancy and review of the literature
    • Raju RR, Hart WR, Magnuson DK, Reid JR, Rogers DG. 2002. Genital tract tumors in Proteus syndrome: Report of a case of bilateral paraovarian endometrioid cystic tumors of borderline malignancy and review of the literature. Mod Pathol 15:172-180.
    • (2002) Mod Pathol , vol.15 , pp. 172-180
    • Raju, R.R.1    Hart, W.R.2    Magnuson, D.K.3    Reid, J.R.4    Rogers, D.G.5
  • 120
    • 0027198408 scopus 로고
    • Neonatal Proteus syndrome
    • Ram SP, Noor AR. 1993. Neonatal Proteus syndrome. Am J Med Genet 47: 303.
    • (1993) Am J Med Genet , vol.47 , pp. 303
    • Ram, S.P.1    Noor, A.R.2
  • 123
    • 0031114091 scopus 로고    scopus 로고
    • Spinal canal compromise in Proteus syndrome: Case report and review of the literature
    • Ring D, Snyder B. 1997. Spinal canal compromise in Proteus syndrome: Case report and review of the literature. Am J Orthop 26:275-278.
    • (1997) Am J Orthop , vol.26 , pp. 275-278
    • Ring, D.1    Snyder, B.2
  • 124
    • 0025326356 scopus 로고
    • Proteus syndrome: Report of a case with severe brain impairment and fatal course
    • Rizzo R, Pavone L, Sorge G, Parano E, Baraitser M. 1990. Proteus syndrome: Report of a case with severe brain impairment and fatal course. J Med Genet 27:399-402.
    • (1990) J Med Genet , vol.27 , pp. 399-402
    • Rizzo, R.1    Pavone, L.2    Sorge, G.3    Parano, E.4    Baraitser, M.5
  • 125
    • 0027454439 scopus 로고
    • Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism
    • Rizzo R, Pavone L, Micali G, Nigro F, Cohen MM Jr. 1993. Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism. Am J Med Genet 47:653-655.
    • (1993) Am J Med Genet , vol.47 , pp. 653-655
    • Rizzo, R.1    Pavone, L.2    Micali, G.3    Nigro, F.4    Cohen Jr., M.M.5
  • 127
    • 0028268265 scopus 로고
    • Growth hormone (GH), insulin-like growth factors (IGFs), and IGF-binding protein-3 (IGFBP-3) in a child with Proteus syndrome
    • Rudolph G, Blum WF, Jenne EW, Schoning M, Enders H, Meitinger T, Murken JD, Kampik A. 1994. Growth hormone (GH), insulin-like growth factors (IGFs), and IGF-binding protein-3 (IGFBP-3) in a child with Proteus syndrome. Am J Med Genet 50:204-210.
    • (1994) Am J Med Genet , vol.50 , pp. 204-210
    • Rudolph, G.1    Blum, W.F.2    Jenne, E.W.3    Schoning, M.4    Enders, H.5    Meitinger, T.6    Murken, J.D.7    Kampik, A.8
  • 130
    • 0032778384 scopus 로고    scopus 로고
    • Encephalocraniocutaneous lipomatosis with otolaryngologic manifestations: A rare neurocutaneous syndrome
    • Sant'Anna GD, Saffer M, Mauri M, Facco S, Raupp S. 1999. Encephalocraniocutaneous lipomatosis with otolaryngologic manifestations: A rare neurocutaneous syndrome. Int J Pediatr Otorhinolaryngol 49:231-235.
    • (1999) Int J Pediatr Otorhinolaryngol , vol.49 , pp. 231-235
    • Sant'Anna, G.D.1    Saffer, M.2    Mauri, M.3    Facco, S.4    Raupp, S.5
  • 131
    • 0027358726 scopus 로고
    • Myopathy of the Proteus syndrome: Hypothesis of muscular dysgenesis
    • Sarnat HB, Diadori P, Trevenen CL. 1993. Myopathy of the Proteus syndrome: Hypothesis of muscular dysgenesis. Neuromuscul Disord 3:293-301.
    • (1993) Neuromuscul Disord , vol.3 , pp. 293-301
    • Sarnat, H.B.1    Diadori, P.2    Trevenen, C.L.3
  • 132
    • 0028937364 scopus 로고
    • Proteus syndrome with renal involvement
    • Sato T, Ota M, Miyazaki S. 1995. Proteus syndrome with renal involvement. Acta Paediatr Jpn 37:81-83.
    • (1995) Acta Paediatr Jpn , vol.37 , pp. 81-83
    • Sato, T.1    Ota, M.2    Miyazaki, S.3
  • 133
    • 0024261355 scopus 로고
    • Report of a case resembling the Proteus syndrome with a chromosome abnormality
    • Say B, Carpenter NJ. 1988. Report of a case resembling the Proteus syndrome with a chromosome abnormality. Am J Med Genet 31:987-989.
    • (1988) Am J Med Genet , vol.31 , pp. 987-989
    • Say, B.1    Carpenter, N.J.2
  • 136
    • 0025987722 scopus 로고
    • DNA fingerprinting: The utilization of minisatellite probes to detect a somatic mutation in the Proteus syndrome
    • Schwartz CE, Brown AM, Der Kaloustian VM, McGill JJ, Saul RA. 1991. DNA fingerprinting: The utilization of minisatellite probes to detect a somatic mutation in the Proteus syndrome. EXS 58:95-105.
    • (1991) EXS , vol.58 , pp. 95-105
    • Schwartz, C.E.1    Brown, A.M.2    Der Kaloustian, V.M.3    McGill, J.J.4    Saul, R.A.5
  • 137
    • 0027529294 scopus 로고
    • Proteus syndrome with cardiomyopathy and a myocardial mass
    • Shaw C, Bourke J, Dixon J. 1993. Proteus syndrome with cardiomyopathy and a myocardial mass. Am J Med Genet 46:145-148.
    • (1993) Am J Med Genet , vol.46 , pp. 145-148
    • Shaw, C.1    Bourke, J.2    Dixon, J.3
  • 138
    • 0036114847 scopus 로고    scopus 로고
    • A novel ophthalmic presentation of the Proteus syndrome
    • Sheard RM, Pope FM, Snead MP. 2002. A novel ophthalmic presentation of the Proteus syndrome. Ophthalmology 109:1192-1195.
    • (2002) Ophthalmology , vol.109 , pp. 1192-1195
    • Sheard, R.M.1    Pope, F.M.2    Snead, M.P.3
  • 141
    • 0033665231 scopus 로고    scopus 로고
    • Sudden death caused by pulmonary thromboembolism in Proteus syndrome
    • Slavotinek AM, Vacha SJ, Peters KF, Biesecker LG. 2000. Sudden death caused by pulmonary thromboembolism in Proteus syndrome. Clin Genet 58:386-389.
    • (2000) Clin Genet , vol.58 , pp. 386-389
    • Slavotinek, A.M.1    Vacha, S.J.2    Peters, K.F.3    Biesecker, L.G.4
  • 142
  • 144
    • 0026778739 scopus 로고
    • Musculoskeletal manifestations of Proteus syndrome: Report of two cases with literature review
    • Stricker S. 1992. Musculoskeletal manifestations of Proteus syndrome: Report of two cases with literature review. J Pediatr Orthop 12:667-674.
    • (1992) J Pediatr Orthop , vol.12 , pp. 667-674
    • Stricker, S.1
  • 145
    • 0028964365 scopus 로고
    • Proteus syndrome: A newly recognized hamartomatous syndrome with significant craniofacial dysmorphology
    • Tattelbaum AG, Dufresne CR. 1995. Proteus syndrome: A newly recognized hamartomatous syndrome with significant craniofacial dysmorphology. J Craniofac Surg 6:151-160.
    • (1995) J Craniofac Surg , vol.6 , pp. 151-160
    • Tattelbaum, A.G.1    Dufresne, C.R.2
  • 146
    • 0017091374 scopus 로고
    • Macrodactyly, hemihypertrophy, and connective tissue nevi: Report of a new syndrome and review of the literature
    • Temtamy SA, Rogers JG. 1976. Macrodactyly, hemihypertrophy, and connective tissue nevi: Report of a new syndrome and review of the literature. J Pediatr 89:924-927.
    • (1976) J Pediatr , vol.89 , pp. 924-927
    • Temtamy, S.A.1    Rogers, J.G.2
  • 147
    • 0017661336 scopus 로고
    • Craniosynostosis, bony exostoses, epibulbar dermoids, epidermal nevus, and slow development
    • Thanos C, Stewart RE, Zonana J. 1977. Craniosynostosis, bony exostoses, epibulbar dermoids, epidermal nevus, and slow development. Syndr Identification 5:19-21.
    • (1977) Syndr Identification , vol.5 , pp. 19-21
    • Thanos, C.1    Stewart, R.E.2    Zonana, J.3
  • 148
    • 0032721663 scopus 로고    scopus 로고
    • A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia - A diagnostic dilemma
    • Thong MK, Thompson E, Keenan R, Simmer K, Harbord M, Davidson G, Haan E. 1999. A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia - A diagnostic dilemma. Clin Dysmorphol 8:283-286.
    • (1999) Clin Dysmorphol , vol.8 , pp. 283-286
    • Thong, M.K.1    Thompson, E.2    Keenan, R.3    Simmer, K.4    Harbord, M.5    Davidson, G.6    Haan, E.7
  • 149
    • 0022494479 scopus 로고
    • The Proteus syndrome: The Elephant Man diagnosed
    • Tibbles JA, Cohen MM Jr. 1986. The Proteus syndrome: The Elephant Man diagnosed. Br Med J 293:683-685.
    • (1986) Br Med J , vol.293 , pp. 683-685
    • Tibbles, J.A.1    Cohen Jr., M.M.2
  • 150
    • 0032151239 scopus 로고    scopus 로고
    • Pathology of lipomatous lesions in Proteus syndrome
    • Tihan T, Okun J. 1998. Pathology of lipomatous lesions in Proteus syndrome. Pediatr Dev Pathol 1:443-448.
    • (1998) Pediatr Dev Pathol , vol.1 , pp. 443-448
    • Tihan, T.1    Okun, J.2
  • 153
    • 0020085820 scopus 로고
    • Decreased collagenase production by regional fibroblasts cultured from skin of a patient with connective tissue nevi of the collagen type
    • Uitto J, Bauer EA, Santa Cruz DJ, Holtmann B, Eisen AZ. 1982. Decreased collagenase production by regional fibroblasts cultured from skin of a patient with connective tissue nevi of the collagen type. J Invest Dermatol 78:136-140.
    • (1982) J Invest Dermatol , vol.78 , pp. 136-140
    • Uitto, J.1    Bauer, E.A.2    Santa Cruz, D.J.3    Holtmann, B.4    Eisen, A.Z.5
  • 154
  • 155
    • 0027949219 scopus 로고
    • Isolated macrodactyly or extremely localized Proteus syndrome?
    • Van Bever Y, Hennekam RC. 1994. Isolated macrodactyly or extremely localized Proteus syndrome? Clin Dysmorphol 3:351-352.
    • (1994) Clin Dysmorphol , vol.3 , pp. 351-352
    • Van Bever, Y.1    Hennekam, R.C.2
  • 159
    • 0023189860 scopus 로고
    • Proteus syndrome in southern Africa: Natural history and clinical manifestations in six individuals
    • Viljoen DL, Nelson MM, de Jong G, Beighton P. 1987. Proteus syndrome in southern Africa: Natural history and clinical manifestations in six individuals. Am J Med Genet 27:87-97.
    • (1987) Am J Med Genet , vol.27 , pp. 87-97
    • Viljoen, D.L.1    Nelson, M.M.2    De Jong, G.3    Beighton, P.4
  • 160
    • 0029887508 scopus 로고    scopus 로고
    • Lymphangiolipoma of the thoracic spine in a pediatric patient with Proteus syndrome
    • Whitley JM, Flannery AM. 1996. Lymphangiolipoma of the thoracic spine in a pediatric patient with Proteus syndrome. Childs Nerv Syst 12:224-227.
    • (1996) Childs Nerv Syst , vol.12 , pp. 224-227
    • Whitley, J.M.1    Flannery, A.M.2
  • 162
    • 0020534650 scopus 로고
    • The Proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections
    • Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. 1983. The Proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 140:5-12.
    • (1983) Eur J Pediatr , vol.140 , pp. 5-12
    • Wiedemann, H.R.1    Burgio, G.R.2    Aldenhoff, P.3    Kunze, J.4    Kaufmann, H.J.5    Schirg, E.6
  • 163
    • 0033757514 scopus 로고    scopus 로고
    • Cerebriform plantar hyperplasia: Ultrastructural study of two cases
    • Winik BC, Boente MC, Asial RA. 2000. Cerebriform plantar hyperplasia: Ultrastructural study of two cases. Eur J Dermatol 10:551-554.
    • (2000) Eur J Dermatol , vol.10 , pp. 551-554
    • Winik, B.C.1    Boente, M.C.2    Asial, R.A.3
  • 165
    • 0029856339 scopus 로고    scopus 로고
    • Proteus syndrome associated with a sacrococcygeal teratoma; a rare combination
    • Zachariou Z, Krug M, Benz G, Daum R. 1996. Proteus syndrome associated with a sacrococcygeal teratoma; a rare combination. Eur J Pediatr Surg 6:249-251.
    • (1996) Eur J Pediatr Surg , vol.6 , pp. 249-251
    • Zachariou, Z.1    Krug, M.2    Benz, G.3    Daum, R.4
  • 167
    • 0035928416 scopus 로고    scopus 로고
    • Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes
    • Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, Winter RM, Eng C. 2001. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet 358:210-211.
    • (2001) Lancet , vol.358 , pp. 210-211
    • Zhou, X.1    Hampel, H.2    Thiele, H.3    Gorlin, R.J.4    Hennekam, R.C.5    Parisi, M.6    Winter, R.M.7    Eng, C.8
  • 168
    • 0021009547 scopus 로고
    • Asymmetric osteocutaneous lipomatosis in a 3-year-old boy associated with defective development of the brain
    • Zuntova A. 1983. [Asymmetric osteocutaneous lipomatosis in a 3-year-old boy associated with defective development of the brain]. Cesk Pediatr 38:724-727.
    • (1983) Cesk Pediatr , vol.38 , pp. 724-727
    • Zuntova, A.1


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