Difference between revisions of "Beckwith-Wiedemann syndrome"
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'''Beckwith-Wiedemann syndrome''' a congenital genetic disorder caused by changes in chromosome 11 (11p15.5).<ref name=omim130650>{{OMIM|130650}}</ref> | '''Beckwith-Wiedemann syndrome''', abbreviated '''BWS''', a congenital genetic disorder caused by changes in chromosome 11 (11p15.5).<ref name=omim130650>{{OMIM|130650}}</ref> | ||
==Characteristics== | ==Characteristics== | ||
Revision as of 04:09, 18 October 2012
Beckwith-Wiedemann syndrome, abbreviated BWS, a congenital genetic disorder caused by changes in chromosome 11 (11p15.5).[1]
Characteristics
Original
Classic description:[1]
- Exomphalos (omphalocele).
- Macroglossia.
- Gigantism.
Notes:
- Memory device OMG = omphalocele, macroglossia, gigantism.
- Omphaloceles are usu. genetic;[2] another consideration is trisomy 18.
More inclusive
Features:[3]
- Metopic ridge - like the Klingon Worf from Star Trek The Next Generation.
- Omphalocele.
- Renal medullary dysplasia.[4]
Associated with an increased risk for:
Images:
See also
References
- ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 130650
- ↑ 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.
- ↑ URL: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/. Accessed on: 16 May 2011.
- ↑ 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.
- ↑ 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.
- ↑ URL: http://www.healthline.com/adamimage?contentId=1-001186&id=17254. Accessed on: 16 May 2011.