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==
===Original===
Classic description:<ref name=omim130650>{{OMIM|130650}}</ref>
*Exomphalos ([[omphalocele]]).
*Macroglossia.
*Gigantism.
Notes:
*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===
Features:<ref>URL: [http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/ http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/]. Accessed on: 16 May 2011.</ref>
Features:<ref>URL: [http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/ http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/]. Accessed on: 16 May 2011.</ref>
*Metopic ridge - like ''Worf'' from ''Star Trek The Next Generation''.
*Metopic ridge - like the Klingon ''Worf'' from ''Star Trek The Next Generation''.
*Omphalocele.
*Omphalocele.
*Associated with increased risk for:
*[[Renal medullary dysplasia]].<ref name=pmid17172498>{{Cite journal  | last1 = Dotto | first1 = J. | last2 = Reyes-Múgica | first2 = M. | title = Renal medullary dysplasia is diagnostic of Beckwith-Wiedemann syndrome. | journal = Int J Surg Pathol | volume = 15 | issue = 1 | pages = 60-1 | month = Jan | year = 2007 | doi = 10.1177/1066896906295685 | PMID = 17172498 }}</ref>
**[[Wilms tumour]].


Classic (original) description:<ref name=omim130650>{{OMIM|130650}}</ref>
Associated with an increased risk for:
*Exomphalos, macroglossia, and gigantism.
*[[Wilms tumour]].
*[[Adrenocortical carcinoma]].<ref name=Ref_PBoD8_1157>{{Ref PBoD8|1157}}</ref>


Images:
====Images====
*[http://blog.jasonaleibowitz.com/wp-content/uploads/2011/03/WorfTNG.jpg Worf (blog.jasonaleibowitz.com)].
*[http://www.healthline.com/images/adam/big/17254.jpg Metopic ridge (healthline.com)].<ref>URL: [http://www.healthline.com/adamimage?contentId=1-001186&id=17254 http://www.healthline.com/adamimage?contentId=1-001186&id=17254]. Accessed on: 16 May 2011.</ref>
*[http://www.healthline.com/images/adam/big/17254.jpg Metopic ridge (healthline.com)].<ref>URL: [http://www.healthline.com/adamimage?contentId=1-001186&id=17254 http://www.healthline.com/adamimage?contentId=1-001186&id=17254]. Accessed on: 16 May 2011.</ref>
===Placenta===
*[[Placental villous immaturity]].


==See also==
==See also==
*[[Pediatric pathology]].
*[[Pediatric pathology]].
*[[Trisomy 18]].


==References==
==References==
{{Reflist|1}}
{{Reflist|2}}


<!--==External links==
*[http://www.beckwith-wiedemannsyndrome.org/tp40/Default.asp?ID=28722 BWS foundation (beckwith-wiedemannsyndrome.org)].
-->
[[Category:Syndromes]]
[[Category:Syndromes]]

Latest revision as of 12:40, 27 June 2017

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.
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