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Volumn 155, Issue 7, 2011, Pages 1690-1696

Encephalocraniocutaneous lipomatosis (ECCL): Neuroradiological findings in three patients and a new association with fibrous dysplasia

Author keywords

Encephalocraniocutaneous lipomatosis; Fibrous dysplasia; Intracranial lipomas; Leptomeningeal angiomatosis

Indexed keywords

AGGRESSION; ARTICLE; ATTENTION DEFICIT DISORDER; BONE LESION; BRAIN ATROPHY; CASE REPORT; CHILD; CHORISTOMA; CLONUS; DEVELOPMENTAL DISORDER; FACE ASYMMETRY; FIBROUS DYSPLASIA; FOCAL EPILEPSY; HEAD INJURY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; INTELLECTUAL IMPAIRMENT; MALE; MEDICAL RECORD; NUCLEAR MAGNETIC RESONANCE IMAGING; PHAKOMATOSIS; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD;

EID: 79959512760     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33954     Document Type: Article
Times cited : (10)

References (37)
  • 1
    • 0033658537 scopus 로고    scopus 로고
    • Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
    • Amor DJ, Kornberg AJ, Smith LJ. 2000. Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome. J Paediatr Child Health 36: 603-605.
    • (2000) J Paediatr Child Health , vol.36 , pp. 603-605
    • Amor, D.J.1    Kornberg, A.J.2    Smith, L.J.3
  • 2
    • 10044290580 scopus 로고    scopus 로고
    • Encephalocraniocutaneous lipomatosis accompanied by maxillary compound odontoma and juvenile angiofibroma: Report of a case
    • Andreadis DA, Rizos CB, Belazi M, Peneva M, Antoniades DZ. 2004. Encephalocraniocutaneous lipomatosis accompanied by maxillary compound odontoma and juvenile angiofibroma: Report of a case. Birth Defects Res A Clin Mol Teratol 70: 889-891.
    • (2004) Birth Defects Res A Clin Mol Teratol , vol.70 , pp. 889-891
    • Andreadis, D.A.1    Rizos, C.B.2    Belazi, M.3    Peneva, M.4    Antoniades, D.Z.5
  • 4
    • 0642333813 scopus 로고    scopus 로고
    • Encephalocraniocutaneous lipomatosis: A neurocutaneous syndrome
    • Brown KE, Goldstein SM, Douglas RS, Katowitz JA. 2003. Encephalocraniocutaneous lipomatosis: A neurocutaneous syndrome. J AAPOS 7: 148-149.
    • (2003) J AAPOS , vol.7 , pp. 148-149
    • Brown, K.E.1    Goldstein, S.M.2    Douglas, R.S.3    Katowitz, J.A.4
  • 6
    • 0031888529 scopus 로고    scopus 로고
    • Encephalocraniocutaneous lipomatosis: A rare neurocutaneous syndrome
    • Ciatti S, Del Monaco M, Hyde P, Bernstein EF. 1998. Encephalocraniocutaneous lipomatosis: A rare neurocutaneous syndrome. J Am Acad Dermatol 38: 102-104.
    • (1998) J Am Acad Dermatol , vol.38 , pp. 102-104
    • Ciatti, S.1    Del Monaco, M.2    Hyde, P.3    Bernstein, E.F.4
  • 8
    • 0023234663 scopus 로고
    • Encephalo-cranio-cutaneous lipomatosis
    • Fishman MA. 1987. Encephalo-cranio-cutaneous lipomatosis. J Child Neurol 2: 186-193.
    • (1987) J Child Neurol , vol.2 , pp. 186-193
    • Fishman, M.A.1
  • 10
    • 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
  • 11
    • 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
  • 12
    • 0027339257 scopus 로고
    • Enzephalokraniokutane lipomatose
    • Happle R, Steijlen PM. 1993. Enzephalokraniokutane lipomatose. Hautarzt 44: 19-22.
    • (1993) Hautarzt , vol.44 , pp. 19-22
    • Happle, R.1    Steijlen, P.M.2
  • 13
    • 0042911629 scopus 로고    scopus 로고
    • Encephalocraniocutaneous lipomatosis: A case with unilateral odontomas and review of the literature
    • Hauber K, Warmuth-Metz M, Rose C, Bröcker EB, Hamm H. 2003. Encephalocraniocutaneous lipomatosis: A case with unilateral odontomas and review of the literature. Eur J Pediatr 162: 589-593.
    • (2003) Eur J Pediatr , vol.162 , pp. 589-593
    • Hauber, K.1    Warmuth-Metz, M.2    Rose, C.3    Bröcker, E.B.4    Hamm, H.5
  • 14
    • 0028293155 scopus 로고
    • Scalp lipomas and cerebral malformations: Overlap between encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome
    • Hennekam RCM. 1994. Scalp lipomas and cerebral malformations: Overlap between encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. Clin Dysmorphol 3: 87-89.
    • (1994) Clin Dysmorphol , vol.3 , pp. 87-89
    • Hennekam, R.C.M.1
  • 15
    • 45749113039 scopus 로고    scopus 로고
    • Encephalocraniocutaneous lipomatosis (Haberland's syndrome): A case report of a neurocutaneous syndrome and a review of the literature
    • Koishi GN, Yoshida M, Alonso N, Matushita H, Goldenberg D. 2008. Encephalocraniocutaneous lipomatosis (Haberland's syndrome): A case report of a neurocutaneous syndrome and a review of the literature. Clinics 63: 406-408.
    • (2008) Clinics , vol.63 , pp. 406-408
    • Koishi, G.N.1    Yoshida, M.2    Alonso, N.3    Matushita, H.4    Goldenberg, D.5
  • 19
    • 0029096178 scopus 로고
    • Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis
    • MacLaren MJ, Kluijt I, Koole FD. 1995. Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis. Doc Ophthalmol 90: 87-98.
    • (1995) Doc Ophthalmol , vol.90 , pp. 87-98
    • MacLaren, M.J.1    Kluijt, I.2    Koole, F.D.3
  • 20
    • 0021637615 scopus 로고
    • Encephalocraniocutaneous lipomatosis: A recently described neurocutaneous syndrome
    • Miyao M, Saito T, Yamamoto Y, Kamoshita S. 1984. Encephalocraniocutaneous lipomatosis: A recently described neurocutaneous syndrome. Childs Brain 11: 280-284.
    • (1984) Childs Brain , vol.11 , pp. 280-284
    • Miyao, M.1    Saito, T.2    Yamamoto, Y.3    Kamoshita, S.4
  • 21
    • 72449153983 scopus 로고    scopus 로고
    • Encephalocraniocutaneous lipomatosis
    • Moog U. 2009. Encephalocraniocutaneous lipomatosis. J Med Genet 46: 721-729.
    • (2009) J Med Genet , vol.46 , pp. 721-729
    • Moog, U.1
  • 25
    • 0033512779 scopus 로고    scopus 로고
    • Encephalocraniocutaneous lipomatosis: Complete neuroradiologic evaluation and follow-up of two cases
    • Parazzini C, Triulzi F, Russo G, Mastrangelo M, Scotti G. 1999. Encephalocraniocutaneous lipomatosis: Complete neuroradiologic evaluation and follow-up of two cases. AJNR Am J Neuroradiol 20: 173-176.
    • (1999) AJNR Am J Neuroradiol , vol.20 , pp. 173-176
    • Parazzini, C.1    Triulzi, F.2    Russo, G.3    Mastrangelo, M.4    Scotti, G.5
  • 26
    • 0033399891 scopus 로고    scopus 로고
    • Encephalocraniocutaneous lipomatosis: A new case report and review of the literature
    • Romiti R, Rengifo JA, Arnone M, Sotto MN, Valente NY, Jansen T. 1999. Encephalocraniocutaneous lipomatosis: A new case report and review of the literature. J Dermatol 26: 808-812.
    • (1999) J Dermatol , vol.26 , pp. 808-812
    • Romiti, R.1    Rengifo, J.A.2    Arnone, M.3    Sotto, M.N.4    Valente, N.Y.5    Jansen, T.6
  • 27
    • 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
  • 28
    • 0022260587 scopus 로고
    • Encephalocraniocutaneous lipomatosis and mixed odontogenic tumors
    • Savage MG, Heldt I, Dann JJ, Bump RL. 1985. Encephalocraniocutaneous lipomatosis and mixed odontogenic tumors. J Oral Maxillofac Surg 43: 617-620.
    • (1985) J Oral Maxillofac Surg , vol.43 , pp. 617-620
    • Savage, M.G.1    Heldt, I.2    Dann, J.J.3    Bump, R.L.4
  • 29
    • 0026694168 scopus 로고
    • Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome
    • Schwindinger WF, Francomano CA, Levine MA. 1992. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 89: 5152-5156.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 5152-5156
    • Schwindinger, W.F.1    Francomano, C.A.2    Levine, M.A.3
  • 30
    • 0028169341 scopus 로고
    • An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome
    • Shenker A, Weinstein LS, Sweet DE, Spiegel AM. 1994. An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J Clin Endocrinol Metab 79: 750-755.
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 750-755
    • Shenker, A.1    Weinstein, L.S.2    Sweet, D.E.3    Spiegel, A.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.