Trisomy 18

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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

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.