Trisomy 18
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Trisomy 18, also known as Edwards syndrome, is a relatively common chromosomal abnormality.
Characteristics
- 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:
- Omphalocele is usually genetic.[5]
- Other considerations should include Beckwith-Wiedemann syndrome.
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
- 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.
- ↑ 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.
- ↑ 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.