Difference between revisions of "Beckwith-Wiedemann syndrome"
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*Memory device ''OMG'' = omphalocele, macroglossia, gigantism. | *Memory device ''OMG'' = omphalocele, macroglossia, gigantism. | ||
*Omphaloceles are usu. genetic;<ref>{{Cite journal | last1 = Frolov | first1 = P. | last2 = Alali | first2 = J. | last3 = Klein | first3 = MD. | title = Clinical risk factors for gastroschisis and omphalocele in humans: a review of the literature. | journal = Pediatr Surg Int | volume = 26 | issue = 12 | pages = 1135-48 | month = Dec | year = 2010 | doi = 10.1007/s00383-010-2701-7 | PMID = 20809116 }}</ref> another consideration is [[trisomy 18]]. | |||
===More inclusive=== | ===More inclusive=== | ||
Revision as of 15:59, 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, and 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.