Tuesday, February 21, 2017

Fanconis anemia mnemonic

Hello!

Here's a post on Fanconis anemia!


Fanconi anemia, or constitutional aplastic anemia, is an autosomal recessive disorder, in which there is a genetic defect in a cluster of proteins responsible for DNA repair. Numerous physical abnormalities are often present at birth, and aplastic anemia occurs at about the age of 5 years. Chromosomal breakage analysis can be used to make the diagnosis.

Here's my mnemonic + notes:



Facial anomalies: Microcephaly, small eyes, epicanthal folds, abnormal shape ears, or absent ears.

Upper limb anomalies: Absent thumb and radius, Triphalangeal thumbs.

Kidney abnormalities: Horseshoe kidney, absent, or duplicate kidney.

Macrocytic anemia with variable progression to full-blown pancytopenia.

Intellectual disability: Seen in only 10% of the patients.

Short stature: See the short S in the image? :D

Skin abnormalities: Hyperpigmentation of the trunk and intertriginous areas, café-au-lait spots, vitiligo.

Patients with Fanconi anemia are also susceptible to leukemia and epithelial carcinomas.

That's all!

-IkaN (Missing my note and stylus S  pen so much T_T )

2 comments:

  1. Thanx a lot........following up your Mnemonics since a long time! and i owe you a big thanx for that...

    ReplyDelete
    Replies
    1. Glad to know you have been studying with me!

      No problem, repay the debt with prayers and good wishes and you owe me nothing! :)

      Delete

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