Beckwith-Wiedemann Syndrome

Beatty ECJr. , Hawes CR Cytomegaly of the adrenal gland. Am J Dis Child. 1955;89:463-467.

Beckwith JB Extreme cytomegaly of the adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas, and Leydig-cell hyperplasia — another syndrome ? Presented at the Annual Meeting of the Western Society for Pediatric Research, Los Angeles, California , Nov. 11, 1963.

Wiedemann HR Complex malformatif familial avec hernie ombilicale et macroglossie. Un syndrome noveau? J Genet Human. 1964;13:223-232.

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Wiedemann HR EMG — syndrome and carbohydrate metabolism . Lancet. 1968; (2):104-105.

Beckwith JB Macroglossia, omphalocele, adrenal cytomegaly, gigantism and hyperplastic visceromegaly. Birth Defects. 1969;5:188-196.

Filippi G. , McKusick VA. The Beckwith-Wiedemann syndrome. Medicine. 1970;49:279-298.

Kosseff AL , Herrmann J. , Opitz JM The Wiedemann-Beckwith syndrome: genetic considerations and the diagnostic sign. Lancet. 1972;(1):844. Letter.

Forrester RM Wiedemann-Beckwith syndrome. Lancet. 1973;(2):47. Letter.

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Turleau C. , deGrouchy J. Beckwith-Wiedemann syndrome: clinical comparison between patients with and without 11p15 trisomy. Ann Genet. 1985;28:93-96.

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Hall JG Genomic imprinting: review and relevance to human diseases. Am J Hum Genet. 1990;46:857-873.

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Moutou C. , Junien C. , Henry I. , Bonaiti-Pellie C. Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females. J Med Genet. 1992;29:217-220.

Koufos A. , Grundy P. , Morgan K. , et al. Familial Wiedemann-Beckwith syndrome and a second Wilms' tumor locus both map to 11p15.5. Am J Hum Genet. 1989;44:711-719.

Ping AJ , Reeve AE , Law DJ , et al. Genetic linkage of Beckwith-Wiedemann syndrome to 11p15. Am J Hum Genet. 1989;44:720-723.

Norman AM , Read AP , Donnai D. Beckwith-Wiedemann syndrome. J Med Genet. 1992;29:679. Letter.

Hoovers JM , Dietrich AJ , Mannens MM Imprinting and Beckwith-Wiedemann syndrome. Lancet. 1992;339:1228. Letter.

Henry I. , Puech A. , Riesewijk A. , et al. Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. Eur J Hum Genet. 1993;1:19-29.

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Ramesar R. , Babaya M. , Viljoen D. Molecular investigation of familial Beckwith-Wiedemann syndrome: a model for paternal imprinting. Eur J Hum Genet. 1993 ;1:109-113.

Brown KW , Williams JC , Maitland NJ , Mott MG Genomic imprinting and the Beckwith-Wiedemann syndrome. Am J Hum Genet. 1990;46:1000-1001.

Turleau C. , deGrouchy J. , Chavin-Colin F. , et al. Trisomy 11p15 and Beckwith-Wiedemann syndrome: a report of two cases. Hum Genet. 1984;67:219-221.

Waziri M. , Patil SR , Hanson JW , Burtley JA Abnormality of chromosome 11 in patients with features of BWS. J Pediatr. 1983;102:873-876.

Pueschel SM , Padre-Mendoza T. Chromosome 11 and Beckwith-Wiedemann syndrome . J Pediatr. 1984;104:484-485.

Tommerup N. , Brandt CA , Pedersen S. , et al. Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11) (p11.2; p15.5) . J Med Genet. 1993;30:958-961.

Weksberg R. , Teshima I. , Williams BR , et al. Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Hum Mol Genet. 1993;2:549-556.

Weksberg R. , Shen DR , Fei YL , et al. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nature Genet. 1993 ;5:143-150.

Steenman Mjc , Ranier S. , Dobry CJ , et al. Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumor. Nature Genet. 1994;7:433-439.

Ogawa O. , Eccles MR , Szeto J. , et al. Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumor. Nature. 1993;362:749-751.

Hao Y. , Crenshaw T. , Moulton T. , et al. Tumour-suppressor activity of H19 RNA. Nature . 1993;365:764-767.

Cohen MMJr. Wiedemann-Beckwith syndrome, imprinting, IGF2 and H19: implications for hemihyperplasia, associated neoplasms, and overgrowth. Am J Med Genet. 1994;52:233-234.

Clayton-Smith J. , Read AP , Donnai D. Monozygotic twinning and Wiedemann-Beckwith syndrome. Am J Med Genet. 1992;42:633-637.

Berry AC , Belton EM , Chantler C. Monozygotic twins discordant for Wiedemann-Beckwith syndrome and the implications for genetic counseling. J Med Genet. 1980;17:136-138.

Bose B. , Wilkie RA , Madlom M. , et al. Wiedemann-Beckwith syndrome in one of monozygotic twins. Arch Dis Child. 1985;60:1191-1192.

Olney AH , Buehler BA , Waziri M. Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins. Am J Med Genet. 1988;29:491-499.

Cote GB , Gvftodimou J. Twinning and mitotic crossing-over: some possibilities and their implications . Am J Med Genet. 1991;29:491-499.

Viljoen DJ , Jaquire Z. , Woods DL Prenatal diagnosis in autosomal dominant Beckwith-Wiedemann syndrome. Prenat Diagn. 1991;11:167-175.

Grundy H. , Walton S. , Burlbaw J. , et al. Beckwith-Wiedemann's syndrome: prenatal ultrasound diagnosis using standard kidney to abdominal circumference value. Am J Perinatol. 1985;2:236-239.

Irving I. The EMG syndrome. Prog Pediatr Surg. 1970 ;1:1-61.

Winter SC , Curry Cjr , Smith JC , et al. Prenatal diagnosis of the Beckwith-Wiedemann syndrome. Am J Med Genet. 1986;24:137-141.

Weng EY , Moeschler J. , Graham JMJr. Longitudinal observations on 15 children with Beckwith-Wiedemann syndrome . Am J Med Genet. 1995. In press.

Chitayat D. , Rothchild A. , Ling E. , et al. Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome. Am J Med Genet. 1990;36:434-439.

Weinstein L. , Anderson C. In utero diagnosis of Beckwith-Wiedemann syndrome by ultrasound. Radiology. 1980;134:474.

Carseldine DB , Crocker EF , Walker AG , Indinger BJ The pre- and postnatal appearance of the kidneys in Beckwith-Wiedemann syndrome. Australas Radiol. 1983;7:30-32.

Cobellis G. , Iannoto P. , Stabile M. , et al. Short communication prenatal ultrasound diagnosis of macroglossia in the Wiedemann-Beckwith syndrome. Prenat Diagn. 1988;8:79-81.

Meizner I. , Carmi R. , Katz M. , Insler V. In utero prenatal diagnosis of Beckwith-Wiedemann syndrome: a case report . Eur J Obstet Gynecol Reprod Biol. 1989 ;32:259-264.

Lodeiro JG , Byers JW , Chuipek S. , Feinstein SJ Prenatal diagnosis and perinatal management of the Beckwith-Wiedemann syndrome: a case and review. Am J Perinatol. 1989;6:446-449.

Yousefzadeh DK Neonatal and pediatric sonography. Curr Opin Radiol. 1992;4:111-125.

Shapiro LR , Duncan PA , Davidian MM , Singer N. The placenta in familial Beckwith-Wiedemann syndrome. Birth Defects. 1982;18:203-206.

Cohen MMJr. A comprehensive and critical assessment of overgrowth and overgrowth syndromes. Adv Hum Genet. 1989;18:181-303.

Gorlin R. , Cohen M. , Levin L. Beckwith-Wiedemann syndrome (EMG exomphalos-macroglossia-gigantism syndrome) . In: Syndromes of the Head and Neck. 3rd ed. New York, NY Oxford University Press; 1990:323-329.

Greenwood RD , Sommer A. , Rosenthal H. , et al. Cardiovascular abnormalities in the Beckwith-Wiedemann syndrome. Am J Dis Child. 1977;131:293-294.

Ponte P. , Katz SM , Falkner B. Beckwith-Wiedemann syndrome: renal pathology at 4 months of age. Clin Pediatr. 1990:29:393-397.

Beckwith JB , Kiviat NB , Bonadio JF Nephrogenic rest, nephroblastomatosis and the pathogenesis of Wilms' tumor. Pediatr Pathol. 1990;10:1-36.

Clericuzio CI Clinical phenotypes and Wilms' tumor. Med Pediat Oncol. 1993;21:182-187.

Beetz R. , Schofer O. , Riedmiller H. , et al. Medullary sponge kidneys and unilateral Wilms' tumour in a child with Beckwith-Wiedemann syndrome. Eur J Pediatr. 1991;150:489-492.

Wiedemann HR Tumor and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr. 1983;141:129.

Andrews MW , Amparo EG Wilms' tumor in a patient with Beckwith-Wiedemann syndrome: onset detected with 3-month serial sonography. Am J Roentgenol. 1993;160:139-140.

Salman RA Oral manifestations of Beckwith-Wiedemann syndrome. Special Care in Dentistry. 1988;8:23-24.

Weiss LS , White JA Macroglossia: a review. J La State Med Soc. 1990;142:13-16.

Mixter RC , Ewanowski SJ , Carson LV Central tongue reduction for macroglossia. Plast Reconstr Surg. 1993;91:1159-1162.

Hunter Agw , Allanson JE Follow-up study of patients with Wiedemann-Beckwith syndrome with emphasis on the change in facial appearance over time. Am J Med Genet . 1994;51:102-107.

Hughes-Benzie R. , Allanson J. , HunterA, Cole T. The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes. J Med Genet. 1992;29:928.

Grundy RG , Pritchard J. , Baraitser M. , et al. Perlman and Wiedemann-Beckwith syndromes: two distinct conditions associated with Wilms' tumour. Eur J Pediatr. 1992;151:895-898.

Sippell WG , Partsch CJ , Wiedemann HR Growth, bone maturation and pubertal development in children with the EMG syndrome. Clin Genet. 1989;35:20-28.