Summary
The main features of Wiedemann-Beckwith syndrome (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, hypoglycemia, ear creases, nevus flammeus, and mid-face hypoplasia. Twenty-two cases of WBS were examined clinically and cytogenetically, and compared to 226 previously reported cases. Aspects of the clinical evaluations are discussed. All individuals examined were chromosomally normal with no evidence of 11p abnormality as has been reported recently. The relevance of a possible relationship between clinical findings, chromosome abnormalities, and genes present on 11p is discussed. Transmission of this condition is most consistent with autosomal dominant inheritance with incomplete penetrance.
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References
Barlow GB (1980) Excretion of polyamines by children with Beckwith's syndrome. Arch Dis Child 55:40–42
Beckwith JB (1969) Macroglossia, omphalocele, adrenal cytomegaly, gigantism and hyperplastic visceromegaly. Birth Defects 5:188–196
Ben-Galim E, Gross-Kieselstein E, Abrahamov A (1977) Beckwith-Wiedemann syndrome in a mother and her son. Am J Dis Child 131:801–803
Benke, PJ (1978) Familial Beckwith-Wiedemann syndrome. Birth Defects Conference, San Francisco
Berry AC, Belton EM, Chanler C (1980) Monozygotic twins discordant for Wiedemann-Beckwith syndrome and the implications for genetic counseling. J Med Genet 17:136–138
Best LG, Hoekstra RE (1980) Wiedemann-Beckwith syndrome: autosomal-dominant inheritance in a family. Am J Med Genet 9:291–299
Brissenden JE, Ullrich, A, Francke U (1984) Chromosomal mapping of loci for insulin-like growth factors I and II and for epidermal growth factor in man. Am J Hum Genet 36:133S
Chemke J (1976) Familial macroglossia-omphalocele syndrome. J Genet Hum 24:271–279
Cohen MM (1969) Comment on the macroglossia-omphalocele syndrome. Birth Defects 5:197
Cohen MM, Gorlin RJ, Feingold M, ten Bensel RW (1971) The Beckwith-Wiedemann syndrome. Am J Dis Child 122:515–519
de Martinville B, Francke U (1983) The c-Ha-ras-1, insulin and B-globin loci map outside the deletion associated with aniridia-Wilms' tumour. Nature 305:641–643
Eaton AP, Maurer WF (1971) The Beckwith-Wiedemann syndrome. Am J Dis Child 122:520–525
Eccles MR, Millow LJ, Wilkins RJ, Reeve AE (1984) Harvey-ras allele deletion detected by in situ hybridization to Wilms' tumor chromosomes. Hum Genet 67:190–192
Emery LG, Shields M, Shah NR, Garbes A (1983) Neuroblastoma associated with Beckwith-Wiedemann syndrome. Cancer 52:176–179
Filippi G, McKusick VA (1970) The Beckwith-Wiedemann syndrome. Medicine 49:279–298
Forrester RM (1973) Wiedemann-Beckwith syndrome. Lancet II:47
Grace JB, Herrman WM, Kornblut AD (1977) Macroglossia in the Beckwith-Wiedemann syndrome. Trans Pa Acad Ophthalmol Otolaryngol 84:116–119
Greenberg F, Stein F, Gresik MV, Finegold MJ, Carpenter RJ, Riccardi VM, Beaudet AL (1986) The Perlman familial nephroblastomatosis syndrome. Am J Med Genet 24:101–110
Greene RJ, Gilbert EF, Huang SW, Horowitz S, Levy RL, Herrmann JRP, Hong R (1973) Immunodeficiency associated with exomphalos-macroglossia-gigantism syndrome. J Pediatr 82:814–820
Greenwood RD, Sommer A, Rosenthal A, Craenen J, Nadas AS (1977) Cardiovascular abnormalities in the Beckwith-Wiedemann syndrome. Am J Dis Child 131:293–294
Grunt JA, Enriquez AR (1972) Further studies of the hypoglycemia in children with the exomphalos-macroglossia-gigantism syndrome. Yale J Biol Med 45:15–21
Hadro T, Kleck KA, Khanna N, Pardo J (1985) Wiedemann-Beckwith syndrome: evidence for ovum-medicated autosomal dominant inheritance. Am J Hum Genet 37:A56
Hamill PVV, Drize TA, Johnson CL, Reed RB, Roche AF, Moore WH (1979) Physical growth: National Center for Health Statistics percentiles. Am. J Clin Nutr 32:607–629
Hasstedt SJ, Cartwright PE (1979) PAP — Pedigree analysis package. Technical report no. 13. Department of Medical Biophysics and Computing, University of Utah Medical Center
Healy NP, Hatcher NH, Willey AM (1984) Differential diagnosis of Beckwith-Wiedemann syndrome and duplication 8q. Am J Hum Genet 36:95S
Ichiba Y, Gardner LI (1975) Metabolic and genetic syndromes of overgrowth. In: Gardner LI (ed) Endocrine and genetic diseases of childhood and adolescence, 2nd edn. Saunders, Philadelphia, pp 1314
Ikeuchi T (1984) Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution banding. Cytogenet Cell Genet 38:56–61
Irving IM (1967) Exomphalos with macroglossia: a study of eleven cases. J Pediatr Surg 2:499–507
Irving IM (1970) The EMG syndrome (exomphalos, macroglossia, gigantism). Prog Pediatr Surg 1:1–61
Jeanpierre M, Henry I, Turleau C, Ullrich A, de Grouchy J, Junien C (1985) Beckwith-Wiedemann syndrome (BWS) and 11p15 markers. 8th International Human Gene Mapping Workshop, Helsinki (abstr 173). Cytogenet Cell Genet 40
Kosseff AL, Herrmann J, Optiz J (1972) The Wiedemann-Beckwith syndrome: genetic considerations and a diagnostic sign. Lancet I:844
Kosseff AL, Herrmann J, Gilbert EF, Viseskul C, Lubinsky M, Opitz JM (1976) Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Eur J Pediatr 123:139–166
Lebo RV, Cheung M, Bruce BD, Riccardi VM, Kao F, Kan YW (1985) Mapping parathyroid hormone, B-globin, insulin, and LDH-A genes within the human chromosome 11 short arm by spot blotting sorted chromosomes. Hum Genet 69:316–320
Lee FA (1972) Radiology of the Beckwith-Wiedemann syndrome. Radiol Clin North Am 10:261–276
Lubinsky M, Herrmann J, Kosseff AL, Opitz JM (1974) Autosomaldominant sex-dependent transmission of the Wiedemann-Beck-with syndrome. Lancet I:932
Martinez RM, Ocampo-Campos R, Perez-Arraya R, Coroma-Rivera E, Cantu JM (1985) The Wiedemann-Beckwith syndrome in four sibs including one with associated congenital hypothyroidism. Eur J Pediatr 143:233–235
Matsuura N, Endo M, Okayasu T, Okuno A (1975) Wiedemann-Beckwith syndrome. Lancet II:508
Mittra I (1984) Somatomedins and proteolytic bioactivation of prolactin and growth hormone. Cell 38:347–348
Moncrieff MW, Goldsmith AR, Mann JR, Chance GW (1970) Macroglossia, abnormal umbilicus and hypoglycaemia (Beck-with's syndrome). Postgrad Med J 46:162–166
Niikawa N, Ishikiriyama S, Takahashi S, Inagawa A, Tonoki H, Ohta Y, Hase 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 24:41–55
Olney AH, Buehler BA, Waziri M (1985) Beckwith-Wiedemann syndrome in discordant monozygotic twins. David W Smith Workshop on malformations and morphogenesis, Sante Fe
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
Piussan C, Risbourg B, Lenaerts C, Delvallez N, Gontier MF, Vitse M (1980) Syndrome de Wiedemann et Beckwith. J Genet Hum 28:281–291
Pueschel SM, Padre-Mendoza T (1984) Chromosome 11 and Beckwith-Wiedemann syndrome. J Pediatr 104:484–485
Punnett HH, Kistermacher ML, Greene AE, Coriell LL (1974) An (X;1) translocation, balanced, 46 chromosomes. Cytogenet Cell Genet 13:406–407
Reddy JK, Schimke N, Chang CHJ, Svoboda DJ, Slaven J, Therou L (1972) Beckwith-Wiedemann syndrome. Arch Pathol 94:523–532
Reeve AE, Housiaux PJ, Gardner RJM, Chewings WE, Grindley RM, Millow LJ (1984) Loss of a Harvey ras allele in sporadic Wilms' tumour. Nature 309:174–176
Ruffie J, Virenque J, Gardier A, Colombies P (1966) Temaniements chromosomiques complexes portant sur les autosomes s'accompagnant d'un omphalocele. CR Acad Sci Paris 262:386–387
Saal H, Adler D, Disteche C (1984) High resolution cytogenetics and molecular hybridization studies of the Beckwith-Wiedemann syndrome. Am J Hum Genet 36:110S
Schiff D, Colle E, Wells D, Stern L (1973) Metabolic aspects of the Beckwith-Wiedemann syndrome. J Pediatr 82:258–262
Schinzel A (1984) Catalogue of unbalanced chromosome aberrations in man. de Gruyter, New York Berlin
Shapiro LR, Duncan PA, Davidian MM, Singer N (1982) The placenta in familial Beckwith-Wiedemann syndrome. Birth Defects 18:203–206
Smith DW (1982) Recognizable patterns of human malformations. Saunders, Philadelphia, pp 130–132
Sommer A, Cutler EA, Cohen BL, Harper D, Backes C (1977) Familial occurrence of the Wiedemann-Beckwith syndrome and persistent fontanel. Am J Med Genet 1:59–63
Sotelo-Avila C, Singer DB (1970) Syndrome of hyperplastic fetal visceromegaly and neonatal hypoglycemia (Beckwith's syndrome). Pediatrics 46:240–251
Sotelo-Avila C, Gonzalez-Crussi F, Fowler JW (1980) Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential. J Pediatr 96:47–50
Spencer GSG, Schabel F, Frisch H (1980) Raised somatomedin associated with normal growth hormone (a cause of Beckwith-Wiedemann syndrome?). Arch Dis Child 55:151–153
SPSS Inc (1983) SPSS users guide. McGraw-Hill, New York
Thorburn MJ, Miller CG, Smith-Read EH (1970) Exomphalosmacroglossia-gigantism syndrome in Jamaican infants. Am J Dis Child 119:316–321
Turleau C, de Grouchy J (1985) Beckwith-Wiedemann syndrome with and without trisomy 11p15. Clin Genet 27:343
Turleau C, de Grouchy J, Chavin-Colin F, Martelli H, Voyer M, Charlas R (1984) Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. Hum Genet 67:219–221
Waziri M, Patil SR, Hanson JW, Bartley JA (1983) Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome. J Pediatr 102:873–876
Weinstein L, Anderson C (1980) In utero diagnosis of Beckwith-Wiedemann syndrome by ultrasound. Radiology 134:474
Wiedemann HR (1964) Complexe malformatif familial avec hernie ombilicale et macroglossie — un syndrome nouveau? J Genet Hum 13:223–232
Wiedemann HR (1983) Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr 141:129
Winter SC, Curry CJR, Smith JC, Kassel S, Miller L, Andrea J (1986) Prenatal diagnosis of the Beckwith-Wiedemann syndrome. Am J Med Genet 24:137–141
Wojciechowski AH, Pritchard J (1981) Beckwith-Wiedemann (exomphalos-macroglossia-gigantism-EMG) syndrome and malignant lymphoma. Eur J Pediatr 137:317–321
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Pettenati, M.J., Haines, J.L., Higgins, R.R. et al. Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 74, 143–154 (1986). https://doi.org/10.1007/BF00282078
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DOI: https://doi.org/10.1007/BF00282078