Difference between revisions of "Trisomy 18"
Jump to navigation
Jump to search
m (→Characteristics: w) |
(→Characteristics: more) |
||
| Line 8: | Line 8: | ||
*[[Omphalocele]]. | *[[Omphalocele]]. | ||
*Rocker bottom feet. | *Rocker bottom feet. | ||
*Horseshoe kidney - up to 20% of cases.<ref>URL: [http://radiopaedia.org/articles/horseshoe_kidney http://radiopaedia.org/articles/horseshoe_kidney]. Accessed on: 14 March 2012.</ref> | |||
Notes: | Notes: | ||
Revision as of 13:35, 14 March 2012
Trisomy 18, also known as Edwards syndrome, is a relatively common chromosomal abnormality.
Characteristics
- Micrognathia - small chin.
- Prominent occiput.
- Overriding fingers - classic finding.
- Omphalocele.
- Rocker bottom feet.
- Horseshoe kidney - up to 20% of cases.[3]
Notes:
- Omphalocele is usually genetic.[4]
- Other considerations should include Beckwith-Wiedemann syndrome.
Image:
A lame short mnemonic
MOOO:
- Micrognathnia.
- Occiput - prominent.
- Omphalocele.
- Overriding fingers.
Another mnemonic
EDWARDS:[5]
- Extra copy of chromosome Eighteen.
- Digits overlap.
- Wide head (prominent occiput).
- Absent intellect (mental retard).
- Rocker-bottom feet.
- Diseased heart.
- Small lower jaw (micrognathnia).
See also
- Trisomy 13 (Patau syndrome).
- Trisomy 21 (Down syndrome).
- Chromosomal anomalies.
- Stillbirth.
References
- ↑ Sherman, C. Recent advances in pathology (lecture). 9 May 2011.
- ↑ URL: http://johnsarm.net/trisomy_18_%28edwards%29.htm. Accessed on: 16 May 2011.
- ↑ URL: http://radiopaedia.org/articles/horseshoe_kidney. Accessed on: 14 March 2012.
- ↑ 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.paeds.co.uk/wiki/index.php?title=Mnemonics#Edward.27s_Syndrome. Accessed on: 30 May 2011.