Difference between revisions of "Trisomy 18"

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*Prominent occiput.
*Prominent occiput.
*Overriding fingers - '''classic finding'''.
*Overriding fingers - '''classic finding'''.
*Omphalocele.
*[[Omphalocele]] ~ 6% in a series of 85 cases.<ref name=pmid3191615>{{Cite journal  | last1 = Moore | first1 = CA. | last2 = Harmon | first2 = JP. | last3 = Padilla | first3 = LM. | last4 = Castro | first4 = VB. | last5 = Weaver | first5 = DD. | title = Neural tube defects and omphalocele in trisomy 18. | journal = Clin Genet | volume = 34 | issue = 2 | pages = 98-103 | month = Aug | year = 1988 | doi =  | PMID = 3191615 }}</ref>
*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:
*Omphalocele is 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>
*[[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]].


====Image====
<gallery>
Image:Overlapping_fingers.JPG | Overlapping fingers. (WC)
</gallery>
===A lame short mnemonic===
===A lame short mnemonic===
''MOOO'':
''MOOO'':
*Micrognathnia.
*Micrognathnia.
*Occiput - prominent.
*[[Omphalocele]].
*Overriding fingers.
*Overriding fingers.
*Omphalocele.
*Occiput - prominent.
===Another mnemonic===
''EDWARDS'':<ref>URL: [http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Edward.27s_Syndrome http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Edward.27s_Syndrome]. Accessed on: 30 May 2011.</ref>
*Extra copy of chromosome '''E'''ighteen.
*Digits overlap.
*Wide head (prominent occiput).
*Absent intellect (mental retard).
*Rocker-bottom feet.
*Diseased heart.
*Small lower jaw (micrognathnia).


==See also==
==See also==
*[[Trisomy 13]] (Patau syndrome).
*[[Trisomy 13]] (Patau syndrome).
*[[Trisomy 21]] (Down syndrome).
*[[Chromosomal anomalies]].
*[[Chromosomal anomalies]].
*[[Stillbirth]].
*[[Stillbirth]].

Latest revision as of 01:28, 19 May 2013

Trisomy 18, also known as Edwards syndrome, is a relatively common chromosomal abnormality.

Characteristics

Features:[1][2]

  • Micrognathia - small chin.
  • Prominent occiput.
  • Overriding fingers - classic finding.
  • Omphalocele ~ 6% in a series of 85 cases.[3]
  • Rocker bottom feet.
  • Horseshoe kidney - up to 20% of cases.[4]

Notes:

Image

  • Overlapping fingers. (WC)

A lame short mnemonic

MOOO:

  • Micrognathnia.
  • Occiput - prominent.
  • Omphalocele.
  • Overriding fingers.

Another mnemonic

EDWARDS:[6]

  • 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

References

  1. ↑ Sherman, C. Recent advances in pathology (lecture). 9 May 2011.
  2. ↑ URL: http://johnsarm.net/trisomy_18_%28edwards%29.htm. Accessed on: 16 May 2011.
  3. ↑ Moore, CA.; Harmon, JP.; Padilla, LM.; Castro, VB.; Weaver, DD. (Aug 1988). "Neural tube defects and omphalocele in trisomy 18.". Clin Genet 34 (2): 98-103. PMID 3191615.
  4. ↑ URL: http://radiopaedia.org/articles/horseshoe_kidney. Accessed on: 14 March 2012.
  5. ↑ 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.
  6. ↑ URL: http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Edward.27s_Syndrome. Accessed on: 30 May 2011.
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