Difference between revisions of "Trisomy 18"
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*Prominent occiput. | *Prominent occiput. | ||
*Overriding fingers - '''classic finding'''. | *Overriding fingers - '''classic finding'''. | ||
*Omphalocele. | *[[Omphalocele]]. | ||
*Rocker bottom feet. | *Rocker bottom feet. | ||
Notes: | Notes: | ||
*Omphalocele is | *[[Omphalocele]] is usually genetic.<ref name=pmid20809116>{{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> | ||
**Other considerations should include [[Beckwith-Wiedemann syndrome]]. | **Other considerations should include [[Beckwith-Wiedemann syndrome]]. | ||
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*Micrognathnia. | *Micrognathnia. | ||
*Occiput - prominent. | *Occiput - prominent. | ||
*Omphalocele. | *[[Omphalocele]]. | ||
*Overriding fingers. | *Overriding fingers. | ||
Revision as of 05:15, 30 January 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.
Notes:
- Omphalocele is usually genetic.[3]
- Other considerations should include Beckwith-Wiedemann syndrome.
Image:
A lame short mnemonic
MOOO:
- Micrognathnia.
- Occiput - prominent.
- Omphalocele.
- Overriding fingers.
Another mnemonic
EDWARDS:[4]
- 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.
- ↑ 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.