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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 | *[[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=== | |||
''MOOO'': | |||
*Micrognathnia. | |||
*Occiput - prominent. | |||
*[[Omphalocele]]. | |||
*Overriding fingers. | |||
===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 21]] (Down syndrome). | |||
*[[Chromosomal anomalies]]. | *[[Chromosomal anomalies]]. | ||
*[[Stillbirth]]. | *[[Stillbirth]]. | ||