Citation, DOI & article data
Beckwith-Wiedemann syndrome (BWS), recently reclassified as Beckwith-Wiedemann spectrum, is a congenital overgrowth disorder characterized by a unique set of features that can consist of:
- macroglossia: most common clinical finding 4
- ear pits or creases
- localized gigantism / macrosomia
- lateralized overgrowth (hemihypertrophy)
- cardiac anomalies
- pancreatic islet cell hyperplasia
The incidence is estimated at around 1:10,000 live births. As such, it is the most common overgrowth and cancer predisposition disorder 8,9. There is no gender or ethnicity predilection.
The majority of cases are sporadic while a small proportion (5-10%) is autosomal dominant with abnormality related to chromosome 11p15.5 (i.e. BWS critical region). The syndrome carries a well-recognized increased risk for the development of neoplasia 4. Another 10-20% of cases show paternal disomy 11, thought to arise from mitotic recombination during early embryogenesis. Phenotypic expression varies widely.
- non-malignant renal diseases 3
- premalignant renal diseases
- placental pathology
- postnatal hypoglycemia
- genitourinary anomalies
History and etymology
First described independently by JB Beckwith in 1963 and H-R Wiedemann in 1964 6,7.
The following disorders share features with Beckwith-Wiedemann syndrome:
- Perlman syndrome: extremely rare; organomegaly, nephroblastomatosis, unique facial features, predisposition to developing Wilms tumor
- Simpson-Golabi-Behmel syndrome: X-linked recessive inheritance; hypertelorism, macrocephaly, macrostomia, coarse features, intellectual disability
- Sotos syndrome: autosomal dominant with sporadic mutations; advanced bone age, acromegaly, macrocephaly, dolichocephaly, frontal bossing, downward slanting palpebral fissures, prognathism (protduding mandible), pointed chin, intellectual disability
- Weaver syndrome: extremely rare, autosomal dominant; frontal bossing, round face, hypertelorism, micrognathia
- 1. Andrews MW, Amparo EG. Wilms' tumor in a patient with Beckwith-Wiedemann syndrome: onset detected with 3-month serial sonography. AJR Am J Roentgenol. 1993;160 (1): 139-40. AJR Am J Roentgenol (citation) - Pubmed citation
- 2. O'connor C, Levine D. Case 49: Beckwith-Wiedemann syndrome. Radiology. 2002;224 (2): 375-8. doi:10.1148/radiol.2242010266 - Pubmed citation
- 3. Choyke PL, Siegel MJ, Oz O et-al. Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome. AJR Am J Roentgenol. 1998;171 (3): 733-7. AJR Am J Roentgenol (abstract) - Pubmed citation
- 4. Harker CP, Winter T, Mack L. Prenatal diagnosis of Beckwith-Wiedemann syndrome. AJR Am J Roentgenol. 1997;168 (2): 520-2. AJR Am J Roentgenol (citation) - Pubmed citation
- 5. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
- 6. Beckwith JB. Extreme cytomegaly of the adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas, and Leydig‐cell hyperplasia: Another syndrome? (1963) Abstract, Western Society for Pediatric Research.
- 7. Wiedemann H‐R. Complexe malformatif familial avec hernie ombilicale et macroglossie, un “syndrome nouveau.” (1964) J Genet Hum 13: 223–232.
- 9. Duffy K, Cielo C, Cohen J et al. Characterization of the Beckwith‐Wiedemann Spectrum: Diagnosis and Management. Am J Med Genet. 2019;181(4):693-708. doi:10.1002/ajmg.c.31740 - Pubmed
- 10. Neri G, Boccuto L, Stevenson RE. Overgrowth Syndromes: A Clinical Guide. (2019) ISBN: 9780190944896 - Google Books