메뉴 건너뛰기




Volumn 91, Issue 1, 2000, Pages 29-33

A case of Perlman syndrome: Fetal gigantism, renal dysplasia, and severe neurological deficits

Author keywords

Cerebral atrophy; Fetal overgrowth; Nephroblastomatosis; Nephrogenic rest; Visceromegaly

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; FETUS MALFORMATION; GIGANTISM; HUMAN; INFANT; KIDNEY BIOPSY; KIDNEY DYSPLASIA; MALE; NEUROLOGIC DISEASE; PERLMAN SYNDROME; PRIORITY JOURNAL;

EID: 0034006094     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000306)91:1<29::AID-AJMG5>3.0.CO;2-U     Document Type: Article
Times cited : (22)

References (17)
  • 1
    • 0342902019 scopus 로고
    • A case of Perlman syndrome associated with a cytogenetic abnormality of chromosome 11
    • Chernos JE, Fowlow SB, Cox DM. 1990. A case of Perlman syndrome associated with a cytogenetic abnormality of chromosome 11. [Abstract] Am J Hum Genet 47(suppl.):A28.
    • (1990) Am J Hum Genet , vol.47 , Issue.SUPPL.
    • Chernos, J.E.1    Fowlow, S.B.2    Cox, D.M.3
  • 2
    • 0030950727 scopus 로고    scopus 로고
    • Extending the overlap of three congenital overgrowth syndromes
    • Coppin B, Moore I, Hatchwell E. 1997. Extending the overlap of three congenital overgrowth syndromes. Clin Genet 51:375-378.
    • (1997) Clin Genet , vol.51 , pp. 375-378
    • Coppin, B.1    Moore, I.2    Hatchwell, E.3
  • 3
    • 0031891797 scopus 로고    scopus 로고
    • Perlman syndrome: A case report emphasizing the similarity to and distinction from Beckwith-Wiedemann and prune-belly syndromes
    • Fahmy J, Kaminsky C, Parisi MT. 1998. Perlman syndrome: a case report emphasizing the similarity to and distinction from Beckwith-Wiedemann and prune-belly syndromes. Pediatr Radiol 28:179-182.
    • (1998) Pediatr Radiol , vol.28 , pp. 179-182
    • Fahmy, J.1    Kaminsky, C.2    Parisi, M.T.3
  • 4
  • 6
    • 0026483207 scopus 로고
    • Perlman and Wiedemann-Beckwith syndromes: Two distinct conditions associated with Wilms' tumour
    • Grundy RG, Pritchard J, Baraitser M, Risdon A, Robards M. 1992. Perlman and Wiedemann-Beckwith syndromes: two distinct conditions associated with Wilms' tumour. Eur J Pediatr 151:895-898.
    • (1992) Eur J Pediatr , vol.151 , pp. 895-898
    • Grundy, R.G.1    Pritchard, J.2    Baraitser, M.3    Risdon, A.4    Robards, M.5
  • 7
    • 0342902017 scopus 로고
    • Perlman syndrome: Report of a case and results of molecular studies
    • Hamel BCJ, Mannens M, Bokkerink JPM. 1989. Perlman syndrome: report of a case and results of molecular studies. [Abstract] Am J Hum Genet 45(suppl.):A48.
    • (1989) Am J Hum Genet , vol.45 , Issue.SUPPL.
    • Hamel, B.C.J.1    Mannens, M.2    Bokkerink, J.P.M.3
  • 8
    • 0029557405 scopus 로고
    • Perlman syndrome: Report of a case with additional radiographic findings
    • Herman TE, McAlister WH. 1995. Perlman syndrome: report of a case with additional radiographic findings. Pediatr Radiol 25:S70-S72.
    • (1995) Pediatr Radiol , vol.25
    • Herman, T.E.1    McAlister, W.H.2
  • 9
    • 0014772767 scopus 로고
    • Metanephric hamartomas and nephroblastomatosis in siblings
    • Liban E, Kozenitzky IL. 1970. Metanephric hamartomas and nephroblastomatosis in siblings. Cancer 25:885-888.
    • (1970) Cancer , vol.25 , pp. 885-888
    • Liban, E.1    Kozenitzky, I.L.2
  • 10
    • 0021229493 scopus 로고
    • The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies
    • Neri G, Martini-Neri ME, Katz BE, Opitz BE. 1984. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. Am J Med Genet 19:195-207.
    • (1984) Am J Med Genet , vol.19 , pp. 195-207
    • Neri, G.1    Martini-Neri, M.E.2    Katz, B.E.3    Opitz, B.E.4
  • 11
    • 0027322519 scopus 로고
    • IFG2 in parentally imprinted during human embryogenesis and in Beckwith-Wiedemann syndrome
    • Ohlsson R, Nyström A, Pfeiffer-Ohlsson S., et al. 1993. IFG2 in parentally imprinted during human embryogenesis and in Beckwith-Wiedemann syndrome. Nature Genet 4:94-97.
    • (1993) Nature Genet , vol.4 , pp. 94-97
    • Ohlsson, R.1    Nyström, A.2    Pfeiffer-Ohlsson, S.3
  • 12
    • 0023017259 scopus 로고
    • Perlman syndrome: Familial renal dysplasia with Wilms' tumor, fetal gigantism and multiple congenital anomalies
    • Perlman M. 1986. Perlman syndrome: familial renal dysplasia with Wilms' tumor, fetal gigantism and multiple congenital anomalies. Am J Med Genet 25:793-795.
    • (1986) Am J Med Genet , vol.25 , pp. 793-795
    • Perlman, M.1
  • 13
    • 0015781893 scopus 로고
    • Renal hamartomas and nephroblastomatosis with fetal gigantism: A familial syndrome
    • Perlman M, Goldberg GM, Bar-Ziv J, Danovitch G. 1973, Renal hamartomas and nephroblastomatosis with fetal gigantism: a familial syndrome. J Pediat 83:414-418.
    • (1973) J Pediat , vol.83 , pp. 414-418
    • Perlman, M.1    Goldberg, G.M.2    Bar-Ziv, J.3    Danovitch, G.4
  • 14
    • 0016794720 scopus 로고
    • Syndrome of fetal gigantism, renal hamartomas and nephroblastomatosis with Wilms' tumour
    • Perlman M, Levin M, Wittels B. 1975. Syndrome of fetal gigantism, renal hamartomas and nephroblastomatosis with Wilms' tumour. Cancer 35:1212-1217.
    • (1975) Cancer , vol.35 , pp. 1212-1217
    • Perlman, M.1    Levin, M.2    Wittels, B.3
  • 15
    • 0028101171 scopus 로고
    • Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome
    • Reik W, Brown KW, Slatter RE. 1994. Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome. Human Mol Genet 3:1297-1301.
    • (1994) Human Mol Genet , vol.3 , pp. 1297-1301
    • Reik, W.1    Brown, K.W.2    Slatter, R.E.3
  • 16
    • 0030735169 scopus 로고    scopus 로고
    • Transactivation of IGF2 in a mouse model of Beckwith-Wiedemann syndrome
    • Sun F-L, Dean WL, Kelsey G, Allen ND, Reik W. 1997. Transactivation of IGF2 in a mouse model of Beckwith-Wiedemann syndrome. Nature 389:809-815.
    • (1997) Nature , vol.389 , pp. 809-815
    • Sun, F.-L.1    Dean, W.L.2    Kelsey, G.3    Allen, N.D.4    Reik, W.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.