Beckwith-Wiedemann syndrome

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Beckwith-Wiedemann syndrome, abbreviated BWS, a congenital genetic disorder caused by changes in chromosome 11 (11p15.5).[1]

Characteristics

Original

Classic description:[1]

Notes:

  • Memory device OMG = omphalocele, macroglossia, gigantism.
  • Omphaloceles are usu. genetic;[2] another consideration is trisomy 18.

More inclusive

Features:[3]

Associated with an increased risk for:

Images

Placenta

See also

References

  1. 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 130650
  2. Frolov, P.; Alali, J.; Klein, MD. (Dec 2010). "Clinical risk factors for gastroschisis and omphalocele in humans: a review of the literature.". Pediatr Surg Int 26 (12): 1135-48. doi:10.1007/s00383-010-2701-7. PMID 20809116.
  3. URL: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/. Accessed on: 16 May 2011.
  4. Dotto, J.; Reyes-Múgica, M. (Jan 2007). "Renal medullary dysplasia is diagnostic of Beckwith-Wiedemann syndrome.". Int J Surg Pathol 15 (1): 60-1. doi:10.1177/1066896906295685. PMID 17172498.
  5. Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1157. ISBN 978-1416031215.
  6. URL: http://www.healthline.com/adamimage?contentId=1-001186&id=17254. Accessed on: 16 May 2011.