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 )

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