Difference between revisions of "Beckwith-Wiedemann syndrome"
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==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
==External links== | |||
*[http://www.beckwith-wiedemannsyndrome.org/tp40/Default.asp?ID=28722 BWS foundation (beckwith-wiedemannsyndrome.org)]. | |||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
Revision as of 16:01, 17 May 2011
Beckwith-Wiedemann syndrome 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 Worf from Star Trek The Next Generation.
- Omphalocele.
- Associated with 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.
- ↑ URL: http://www.healthline.com/adamimage?contentId=1-001186&id=17254. Accessed on: 16 May 2011.