Difference between revisions of "Beckwith-Wiedemann syndrome"
Jump to navigation
Jump to search
(→Characteristics: expand, re-order) |
|||
| Line 22: | Line 22: | ||
==See also== | ==See also== | ||
*[[Pediatric pathology]]. | *[[Pediatric pathology]]. | ||
*[[Trisomy 18]]. | |||
==References== | ==References== | ||
Revision as of 15:58, 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.
More inclusive
Features:[2]
- 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
- ↑ 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.