Hypoglycemia in Beckwith-Wiedemann syndrome

Seminars in Perinatology

Volumn 24, Issue 2, 2000, Pages 164-171

  DeBaun, M R ^a   King, A A ^a   White, N ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOHYDRATE; DIAZOXIDE; OCTREOTIDE;

ABDOMINAL WALL DEFECT; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CARBOHYDRATE INTAKE; CHILDHOOD CANCER; CHROMOSOME 11P; EMBRYONAL CARCINOMA; GENOTYPE; HUMAN; HYPERINSULINEMIA; HYPOGLYCEMIA; MACROGLOSSIA; MACROSOMIA; NEWBORN; PANCREAS RESECTION; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS;

EID: 0034090918     PISSN: 01460005     EISSN: None     Source Type: Journal    
DOI: 10.1053/sp.2000.6366     Document Type: Article

References (31)

1. Elliot M Bayly R Cole T Clinical features and natural history of Beckwith-Wiedemann syndrome: Presentation of 74 new cases Clin Genet 46 1994 168 174
2. DeBaun M Tucker M Risk of cancer during the first four years of life in children from the Beckwith Wiedemann Syndrome Registry J Pediatr 132 1998 398 400
3. Martinez y Martinez R Martinez-Carboney R Ocampo-Campos R Wiedemann-Beckwith Syndrome: Clinical, cytogenetical and radiological observations in 39 new cases Genet Couns 3 1992 67 76
4. Cornblath M Schwartz R Hypoglycemia in the Neonate. Disorders of Carbohydrate Metabolism in Infancy. Major Problems in Clinical Pediatrics 1976 Saunders Philadelphia, PA 155 205
5. Irving IM The EMG syndrome (exomphalos, macroglossia, gigantism) Prog Pediatr Surg 1 1970 1 61
6. Pettenati M Haines J Higgins R Wiedemann-Beckwith syndrome: Presentation of clinical and cytogenetic data on 22 new cases and review of the literature Hum Genet 74 1986 143 154
7. Beckwith JB Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly Birth Defects: Original Articles 5 1969 188 196
8. Moncrieff M Lacey K Malleson P Management of prolonged hypoglycemia in Beckwith's syndrome Postgrad Med J 53 1977 159 161
9. Chitayat D Rothchild A Ling E Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome Am J Med Gen 36 1990 434 439
10. Stanley C Baker L Hyperinsulinism in infancy: Diagnosis by demonstration of abnormal response to fasting hypoglycemia Pediatrics 57 1976 702 711
11. Finegold D Stanley C Baker L Glycemic response to glucagon during fasting hypoglycemia: An aid in the diagnosis of hyperinsulinism J Pediatr 96 1980 257 259
12. Touati G Poggi-Travert F de Baulny H Long-term treatment of persistent hyperinsulinemic hypoglycemia of infancy with diazoxide: A retrospective review of 77 cases and analysis of efficacy-predicting criteria Eur J Pediatr 157 1988 628 633
13. Feinberg A Genomic imprinting and gene activation in cancer Nat Genet 4 1993 110 113
14. Li M Squire J Weksberg R Overgrowth syndromes and genomic imprinting: From mouse to man Clin Genet 53 1998 165 170
15. Lee M DeBaun M Randawa G Low frequency of p57kip2 mutation in Beckwith-Wiedemann syndrome Am J Hum Genet 61 1997 304 309
16. Lee M DeBaun M Kohzoh M Loss of imprinting of a partenally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting Proc Natl Acad Sci USA 96 1999 5203 5208
17. O'Dell S Day I Molecules in focus: Insulin-like growth factor II (IGF-II) Int J Biochem Cell Biol 30 1998 767 771
18. Weksberg R Shen DR Fei YL Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome Nat Genet 5 1993 143 150
19. Slavotinek A Gaunt L Donnai D Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome J Med Genet 34 1997 819 826
20. Slatter R Elliot M Welham K Mosaic Uniparental Disomy in Beckwith-Wiedemann Syndrome J Med Genet 31 1994 749 753
21. Sun F-L Dean WL Kelsey G Transactivation of IGF-II in a mouse model of Beckwith-Wiedemann syndrome Nature 389 1997 809 815
22. Dutly F Baumer A Kayserili H Seven cases of Beckwith-Wiedemann syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11 Am J Med Genet 79 1998 347 352
23. de Lonlay P Fournet JC Rahier J Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy J Clin Invest 100 1997 802 807
24. Aguilar-Bryan L Bryan J Molecular biology of adenosine triphosphate-sensitive potassium channels Endocr Rev 20 1999 101 135
25. Meissner T Brune W Mayatepek E Persistent hyperinsulinaemic hypoglycaemia of infancy: Therapy, clinical outcome and mutational analysis Eur J Pediatr 156 1997 754 757
26. Dunne M Kane C Shepard RM Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor N Engl J Med 336 1997 703 706
27. Thornton PS Satin-Smith MS Heold K Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant J Pediatr 132 1998 9 14
28. Verkarre V Fournet JC de Lonlay P Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia J Clin Invest 102 1999 1286 1291
29. Glaser B Ryan F Donath M Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene Diabetes 48 1999 1652 1657
30. Stanley C Hyperinsulinism in infants and children Pediatr Clin North Am 44 1997 363 374
31. Gerver WJM Merheere PPCA Schaap C The effects of a somatostatin analogue on the metabolism of an infant with Beckwith-Wiedemann syndrome and hyperinsulinemic hypoglycaemia Eur J Pediatr 150 1991 634 637