Beckwith-Wiedemann Syndrome: Historical, Clinicopathological, and Etiopathogenetic Perspectives
- 1 May 2005
- journal article
- review article
- Published by SAGE Publications in Pediatric and Developmental Pathology
- Vol. 8 (3), 287-304
- https://doi.org/10.1007/s10024-005-1154-9
Abstract
Macroglossia, prenatal or postnatal overgrowth, and abdominal wall defects (omphalocele, umbilical hernia, or diastasis recti) permit early recognition of Beckwith-Wiedemann syndrome. Complications include neonatal hypoglycemia and an increased risk for Wilms tumor, adrenal cortical carcinoma, hepatoblastoma, rhabdomyosarcoma, and neuroblastoma, among others. Perinatal mortality can result from complications of prematurity, pronounced macroglossia, and rarely cardiomyopathy. The molecular basis of Beckwith-Wiedemann syndrome is complex, involving deregulation of imprinted genes found in 2 domains within the 11p15 region: telomeric Domain 1 (IGF2 and H19) and centromeric Domain 2 (KCNQ1, KCNQ1OT1, and CDKN1C). Topics discussed in this article are organized as a series of perspectives: general, historical, epidemiologic, clinical, pathologic, genetic/molecular, diagnostic, and differential diagnostic.Keywords
This publication has 104 references indexed in Scilit:
- Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1Nature Genetics, 2002
- Epigenetic Alterations of H19 and LIT1 Distinguish Patients with Beckwith-Wiedemann Syndrome with Cancer and Birth DefectsAmerican Journal of Human Genetics, 2002
- Imprinting Status of 11p15 Genes in Beckwith–Wiedemann Syndrome Patients with CDKN1C MutationsGenomics, 2001
- Clinical features and natural history of Beckwith‐Wiedemann syndrome: presentation of 74 new casesClinical Genetics, 1994
- Chromosome 11 and Beckwith-Wiedemann syndromeThe Journal of Pediatrics, 1984
- Abnormality of chromosome 11 in patients withfeatures of Beckwith-Wiedemann syndromeThe Journal of Pediatrics, 1983
- Complete and incomplete forms of Beckwith-Wiedemann syndrome: Their oncogenic potentialThe Journal of Pediatrics, 1980
- Thyroxine-binding globulin deficiency in Beckwith syndromeThe Journal of Pediatrics, 1979
- Breast fibroadenoma and cardiac anomaly associated with EMG (Beckwith-Wiedemann) syndromeThe Journal of Pediatrics, 1979
- Immunodeficiency associated with exomphalos-macroglossia-gigantism syndromeThe Journal of Pediatrics, 1973