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Trisomy 13, also known as Patau syndrome, is a relatively common chromosomal abnormality.
- Midface abnormality - key feature.
- An extreme example: holoprosencephaly - failure of the forebrain to divide into hemispheres.
- Cardiac abnormalities.
- Aplasia cutis congenita (AKA aplasia cutis) - congenital absence of hair; usu. on the scalp.
- Polydactyly - more than the normal number of digits.
- Horseshoe kidney.
- Rocker bottom feet.
A terrible mnemonic
- Aplasia cutis & low hair line.
- Terrible face - midface abnormalities, including cleft left and palate.
- Abnormal heart (cardiac defects).
- Urinary system abnormalities (horseshoe kidney).
- Sherman, C. Recent advances in pathology (lecture). 9 May 2011.
- URL: http://johnsarm.net/Trisomy%2013%20%28Patau%29.htm. Accessed on: 16 May 2011.
- URL: http://dictionary.reference.com/browse/Holoprosencephaly. Accessed on: 16 May 2011.
- URL: http://dictionary.reference.com/browse/Aplasia+cutis+congenita. Accessed on: 16 May 2011.
- URL: http://dictionary.reference.com/browse/polydactyl. Accessed on: 16 May 2011.