Abstract
Though children with Perlman and Wiedemann-Beckwith syndromes have a number of features in common, the two conditions are probably separate entities. The distinction may not always be easy, however, partly because of the extreme rarity of Perlman syndrome, only nine cases of which have been reported so far. We report two siblings, initially diagnosed as having Wiedemann-Beckwith syndrome, in whom the correct diagnosis of Perlman syndrome was made only after an autopsy on the second child. By comparing and contrasting the features of Perlman and Wiedemann-Beckwith syndromes in this report we hope to make it easier to distinguish the two conditions.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Aleck, KA, Hadro TA (1989) Dominant inheritance of Wiedemann-Beckwith syndrome: further evidence for transmission of “unstable premutation” through carrier women. Am J Med Genet 33:155–160
Beckwith JB (1969) Macroglossia, omphalocele, adrenal cytomegaly, gigantism and hyperplastic visceromegaly. Birth Defects 5:188–196
Best LG, Hoekstra RE (1981) Wiedemann-Beckwith syndrome: Autosomal dominant inheritance in a family. Am J Med Genet 9:291–299
Bose B, Wilkie RA, Madlom M (1985) Wiedemann-Beckwith syndrome in one of monzygotic twins. Arch Dis Child 60: 1191–1192
Emery LG, Shields M 1983) Neuroblastoma associated with Beckwith-Wiedemann syndrome. Cancer 52:176–179
Engstrom W, Lindham S, Schofield P (1988) Wiedemann-Beckwith syndrome. Eur J Paediatr 147:450–457
Filippi G, McKusick VA (1970) The Beckwith-Wiedemann syndrome. Medicine 49:279–298
Gessler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns GAP (1990) Homozygous deletion in Wilms' tumours of a zincfinger gene identified by chromosome jumping. Nature 343:774–778
Green RJ, Gilbert EF, Huang SW, Horowitz S, Levy RC, Hermann JPR, Hong R (1973) Immunodeficiency associated with exomphalos-macroglossia syndrome. J Pediatr 82:814–820
Greenberg F, Stein F, Gresik MV, Finegold MJ, Carpenter RJ, Ricardi VM, Beaudet AL (1986) The Perlman familial nephrobiastomatosis syndrome. Am J Med Genet 24:101–110
Greenberg F, Copeland K, Gresik MV (1988) Expanding the spectrum of the Perlman syndrome. Am J Med Genet 29:773–776
Heidermann RL, Haase GM, Foley CL, Wilson HL, Bailey WC (1985) Nephroblastomatosis and Wilms' tumour: clinical experience and management of seven patients. Cancer 55: 1446–1451
Irving I (1970) The EMG syndrome. Prog Pediatr Surg 1:1–61
Knight JA, Palmer A, Gardner AY, Boyen WC (1980) Association of the Beckwith and prune belly syndromes. Clin Pediatr 19:485–488
Liban E, Kozenitzky IL (1970) Metanephric hamartomas and nephroblastosis in siblings. Cancer 25:885–888
Mitchell CD (1992) Wilms' tumour. In: Cameron S, Davison AM, Grünfeld J-P, Kerr D, Ritz E (eds) Textbook of nephrology. Oxford University Press, Oxford, pp 2253–2265
Neri G, Martini-Neri ME, Katz BE, Opitz JM (1984) The Perlman syndrome: familal renal dysplasia with Wilms' tumour, fetal gigantism and multiple congenital abnormalities. Am J Med Genet 19:195–207
Niikawa N, Ishikiriyama S, Takahasi S, Inagawer A, Tonoki H, Ohta Y, Nase N, Kamei T, Kajii T (1986) The Wiedemann-Beckwith syndrome. Pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity. Am J Med Genet 17:136–138
Perlman M (1986) Perlman syndrome: familial renal dysplasia with Wilms' tumour, fetal gigantism and multiple congenital anomalies. Am J Med Genet 25:793–795
Perlman M, Goldberg GM, Bar-Ziv J, Danovitch G (1973) Renal hamartomas and nephroblastomatosis with fetal gigantism: a familial syndrome. J Pediatr 83:414–418
Perlman M, Levin M, Wittels B (1975) Syndrome of fetal gigantism, renal hamartomas, and nephroblastomatosis with Wilms' tumor. Cancer 35:1212–1217
Pritchard-Jones K, Fleming S, Davidson D, Bickmore W, Porteous D, Godsen C, Bard J, Buckler A, Housman D, Van Heyningen V, Hastie N (1990) The candidate Wilms' gene is involved in genitourinary development. Nature 346:194–197
Reeve AE, Eccles MR, Wilkins RJ, Bell GI, Millow LJ (1985) Expression of insulin-like growth factor-II transcripts in Wilms' tumour. Nature 317:258–260
Scott I, Cowell JK, Robertson M, Knott IJ, Priestley LM, Wadey R, Hopkins B, Bell GI, Pritchard J, Rall LB, Graham CF, Knott I (1985) Insulin-like growth factor gene expression in Wilms' tumour and embryonic tissues. Nature 317:260–262
Sotelo-Avilla C, Gonzalez-Crussi F, Fowler JW (1980) Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential. J Pediatr 96:47–50
Turleau C, Grouchy I de, Charin-Colin F, Murtelle H, Voyer H, Charlas R (1984) Trisomy 11p15 and Beckwith Wiedemann syndrome. Hum Genet 67:219–221
Weinstein JM, Backonja M, Houston LW (1986) Optic glioma associated with Beckwith-Wiedemann syndrome. Pediatr Neurol 2:308–310
Wojciechowski A, Pritchard J (1981) Beckwith-Wiedemann (Exomphalos-Macroglossia-Gigantism-EMG) syndrome and malignant lymphoma. Eur J Paediatr 137:317–321
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Grundy, R.G., Pritchard, J., Baraitser, M. et al. Perlman and Wiedemann-Beckwith syndromes: Two distinct conditions associated with Wilms' tumour. Eur J Pediatr 151, 895–898 (1992). https://doi.org/10.1007/BF01954125
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01954125